Genetikai vizsgálatok A-Z-ig

Az alábbi táblázatban közel 2.000 különféle ma ismert genetikai betegséget és a hozzá tartozható genetikai vizsgálatot soroljuk fel. A táblázatban Ön egyszerűen tud a vizsgálni kívánt betegség vagy gén nevének beírásával keresni. A keresés angolul (amely sok eseteben a latin - sőt, a magyar - elnevezéshez hasonló) történjen, mivel a táblázatban így találhatóak a betegségek nevei. A gének esetében a nemzetközi nevet/rövidítést használjuk.

Bárminemű kérdése lenne a genetikai vizsgálatokkal kapcsolatban - abban az esetben is, ha esetleg nem találta meg a lenti táblázatban, kérem, keresse munkatársainkat elérhetőségeink valamelyikén.

Betegség, szindróma PentaCore teszt
Adenosine triphosphate, elevated, of erythrocytes Sanger sequencing of the PKLR gene
Hemochromatosis, type 4 Sanger sequencing of the SLC40A1 gene
Polyglucosan body myopathy 1 with or without immunodeficiency Sanger sequencing of the RBCK1 gene
Thrombocytopenia, X-linked, intermittent Sanger sequencing of the WAS gene
17-alpha-hydroxylase deficiency Sanger secuencing of the CYP17A1 gene
22q11.2 Microdeletion (DiGeorge, velocardiofacial syndromes) Detection of the 22q11.2 deletion by family study
22q11.2 Microdeletion (DiGeorge, velocardiofacial syndromes) Detection of deletions on the 22q11.2 genomic region by FISH
22q11.2 Microdeletion (DiGeorge, velocardiofacial syndromes) Detection of the 22q11.2 deletion by MLPA
22q11.2 Microdeletion (DiGeorge, velocardiofacial syndromes) Sanger Sequencing of the TBX1 gene
3-M syndrome 1 Sanger Sequencing of the CUL7 gene
3-M syndrome 2 NGS and Sanger Sequencing of the OBSL1 gene
3MC syndrome 1 Sanger Sequencing of the MASP1 gene
3MC types 1 and 2; Craniofacial-deafness-hand syndrome, Waardenburg type 3. Next Generation Sequencing of 3 gene panel: COLEC11, MASP1, PAX3.
6-mercaptopurine sensitivity Genotyping of the gene TPMT - determination of the genotypes linked to 6-mercaptopurine
Aarskog-Scott syndrome Sanger Sequencing of the FGD1 gene
Ablepharon-macrostomia syndrome Detection of deletions and/or duplications in FGD1 gene by MLPA
Ablepharon-macrostomia syndrome Sanger sequencing of the TWIST2 gene
Abnormal mineralization group: Nephrolithiasis / osteoporosis, hypophosphatemic, 1, 2 , Fanconi renotubular syndrome 2, Chondrocalcinosis 2 AD, Metaphyseal dysplasia, Jansen and Eiken types Next Generation Sequencing of 5 gene panel: ANKH, AMER1, PTH1R, SLC34A1, SLC9A3R1.
Aceruloplasminemia Sanger Sequencing of the CP gene
Acetylation Slow Sanger sequencing of the NAT2 gene
Acetylation Slow Determination of genotypes associated with N-acetylation activity
Achalasia-addisonianism-alacrimia syndrome Sanger Sequencing of the AAAS gene
Acheiropody Sanger Sequencing of the LMBR1 gene
Achondrogenesis, type IA NGS and Sanger Sequencing of the TRIP11 gene
Achondrogenesis, type II or hypochondrogenesis NGS and Sanger Sequencing of the COL2A1 gene
Achondrogenesis, type II or hypochondrogenesis Large deletions and duplications in the COL2A1 gene by MLPA
Achondrogenesis, type II or hypochondrogenesis, Achondrogenesis IA, IB, Fibrochondrogenesis, autosomal recessive. Next Generation Sequencing of 5 gene panel: COL11A1, COL11A2, COL2A1, SLC26A2, TRIP11.
Achondroplasia Detection of the 1138G>A, 1138G>C and 1123G>T mutations in the FGFR3 gene
Achromatopsia-3 Sanger Sequencing of CNGB3 gene
Acrocallosal Syndrome Sanger Sequencing of the KIF7 gene
Acrocapitofemoral dysplasia Sanger sequencing of the IHH gene
Acrodermatitis Enteropathica, Zinc-Deficiency Type; AEZ Sanger Sequencing of the SLC39A4 gene
Acrodysostosis 1 with or without hormone resistance Sanger sequencing of the PRKAR1A gene
Acrokeratosis verruciformis Sanger Sequencing of the ATP2A2 gene
Acromelic dysplasias: Acrocapitofemoral dysplasia, Geleophysic dysplasia, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, 4. Next Generation Sequencing of 4 gene panel: ADAMTSL2, IHH, WDR19, WDR35.
Acromesomelic dysplasia, Maroteaux type Sequencing of the NPR2 gene
Acromesomelic dysplasias: Acromesomelic dysplasia types Maroteaux, Hunter-Thompson, Grebe dysplasia, Fibular hypoplasia and complex brachydactyly (Du Pan), Acromesomelic dysplasia with genital anomalies. Next Generation Sequencing of 3 gene panel: BMPR1B, GDF5, NPR2
Acromicric dysplasia NGS and Sanger FBN1 gene
ACTH-independent macronodular adrenal hyperplasia 2 Sanger sequencing of the ARMC5 gene
Acyl-CoA Dehydrogenase deficiency NGS of 6 gene panel: ACAD9, ACADVL, ACADM, ACADS, AMACR, HMGCS2
Adenomatous polyposis 2, familial Sanger sequencing of the MUTYH gene
Adenomatous polyposis, familial Sanger Sequencing of the APC gene
Adenomatous polyposis, familial Detection of large deletions and/or duplications in the APC gene by MLPA
Adenomatous polyposis, familial Next Generation Sequencing of 3 gene panel: APC, AXIN2, MUTYH
Adenomatous polyposis, familial Frequent mutations in the MUTYH gene
Adenylosuccinase deficiency Sanger sequencing of the ADSL gene
Adrenoleukodystrophy Sanger Sequencing of the ABCD1 gene
Adrenoleukodystrophy; Leukodystrophy, hypomyelinating; Hypomyelination, global cerebral; Deafness, dystonia, and cerebral hypomyelination (DDCH); Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. NGS of 12 gene panel: ABCD1, AIMP1, BCAP31, DARS, DARS2, FAM126A, GJC2, HSPD1, POLR3A, POLR3B, SLC25A12, TUBB4A.
Agenesis of the corpus callosum with: Frontonasal dysplasia ; Microphthalmia, syndromic 7; Mental retardation 28; Menkes disease, Occipital horn syndrome, VACTERL association. NGS of 8 gene panel: ALX4, ATP7A, DYNC1H1, HCCS, IGBP1, L1CAM, YWHAE, ZIC3.
Aicardi-Goutieres syndrome NGS of 6 gene panel: ADAR4, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1
Aicardi-Goutieres syndrome 1, dominant and recessive Sanger Sequencing of the TREX1 gene
Aicardi-Goutieres syndrome 2 Sanger Sequencing of the RNASEH2B gene
Aicardi-Goutieres syndrome 3 Sanger Sequencing of the RNASEH2C gene
Aicardi-Goutieres syndrome 4 Sanger Sequencing of the RNASEH2A gene
Aicardi-Goutieres 1, Alpers, Bartter, Griscelli, Kohlschutter-Tonz, Martsolf, Menkes, Neu-Laxova, Pitt-Hopkins, SANDO, Sesame, Warburg micro syndromes NGS of 15 gene panel: ATP7A, CNTNAP2, KCNJ1, KCNJ10, MYO5A, NRXN1, POLG, PSAT1, RAB27A, RAB3GAP1, RAB3GAP2, ROGDI, SLC12A1, TCF4, TREX1.
Alagille syndrome 2 NGS and Sanger Sequencing of the NOTCH2 gene
Alagille, type 1 syndrome Sanger Sequencing of the JAG1 gene
Alagille, type 1 syndrome Detection of large deletions and/or duplications in the JAG1 gene by MLPA
Albinism related syndromic and non-syndromic. NGS of 17 gene panel: AP3B1, BLOC1S3, BLOC1S6, C10orf11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, OCA2, SLC24A5, SLC45A2, TYR, TYRP1.
Albinism related syndromic and non-syndromic.
Albinism, Oculo-cutaneous type 1A Sanger Sequencing of the TYR gene
Albinism, Oculo-cut neous type 1B Sanger Sequencing of the TYR gene
Albinism, Oculo-cutaneous type II Sanger Sequencing of the OCA2 gene
Albinism, Oculo-cutaneous type II Detection of large deletions and/or duplications in the OCA2 gene by MLPA
Alcohol sensitivity Genotyping of the ALDH2*2. ADH1B*47His and ADH1C*349Ile polymorphisms
Aldosteronism, glucocorticoid-remediable Sanger sequencing of the CYP11B1 gene
Alexander disease Sanger sequencing of the GFAP gene
Alpha Thalassemia (Deletion type) Deletion screening in genes HBA2 and HBA1
Alpha1-antitrypsin deficiency Genotyping of the PI*Z and PI*S alleles of the SERPINA1 gene
Alpha1-antitrypsin deficiency Sanger sequencing of the SERPINA1 gene
Alpha-Galactosidase A Deficiency (Fabry disease) Sanger Sequencing of the GLA gene
Alpha-Galactosidase A Deficiency (Fabry disease) Detection of large deletions and/or duplications in GLA gene by MLPA
Alpha-Galactosidase A Deficiency (Fabry disease) Sanger Seq.of the GLA gene & Detection of large deletions and/or duplications in the GLA gene by MLPA
Alpha-Thalassemia, G6PD deficiency, Lesch-Nyhan syndrome, Danon disease. NGS of 4 gene panel: ATRX, G6PD, HPRT1, LAMP2.
Alport syndrome NGS + Sanger sequencing of the COL4A4 gene
Alport syndrome Detection of large deletions and/or duplications in the COL4A3 gene by MLPA
Alport syndrome Detection of large deletions and/or duplications in the COL4A4 gene by MLPA
Alport syndrome types AD, AR, X-Linked, Hematuria, benign familial, Leiomyomatosis, diffuse, with Alport syndrome, Next Generation Sequencing of 4 gene panel: COL4A3, COL4A4, COL4A5, COL4A6.
Alport syndrome, autosomal recessive NGS + Sanger sequencing of the COL4A3 gene
Alport Syndrome, X-linked Detection of large deletions and/or duplications in the COL4A5 gene by MLPA
Alport Syndrome, X-linked NGS + Sanger sequencing of the COL4A5 gene
Alstrom syndrome Sanger Sequencing of the ALMS1 gene
Alternating hemiplegia of childhood 2 Sanger sequencing of the ATP1A3 gene
Alzheimer disease, Type 1 Genotyping of the ApoE gene
Alzheimer disease, Type 1 Sanger Sequencing of the APP gene
Alzheimer disease, Type 1 Detection of deletions and/or duplications in APP gene by MLPA
Alzheimer disease, Type 3 Sanger Sequencing of the PSEN1 gene
Alzheimer disease, Type 3 Detection of deletions and/or duplications in PSEN1 gene by MLPA
Alzheimer disease, Type 4 Sanger Sequencing of the PSEN2 gene
Alzheimer disease NGS of 4 gene panel: APOE, APP, PSEN1, PSEN2.
Amelogenesis Genes AMELX, ENAM, MMP20, KLK4, DLX3, FAM83H, WDR7 2 mutation panel
Amelogenesis imperfecta, hypomaturation type, IIA3 Sanger sequencing of the WDR72 gene
Amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism, Amelogenesis imperfecta, types IB, 3, Amelogenesis imperfecta, hypomaturation type, IIA3 AD Next Generation Sequencing of 4 gene panel: DLX3, ENAM, FAM83H, WDR72
Amelogenesis imperfecta, type IC, IIA1, IIA2, Amelogenesis imperfecta and gingival fibromatosis syndrome, AR Next Generation Sequencing of 4 gene panel: ENAM, FAM20A, KLK4, MMP20
AMME complex, Androgen insensitivity, Norrie disease, Lowe, CHILD, Oral-facial-digital syndrome Pelizaeus-Merzbacher disease, TARP, Coffin-Lowry, Stocco dos Santos, Allan-Herndon-Dudley, MR X-L 14, Wieacker-Wolf, Brunner, syndromes NGS of 14 gene panel: AMMECR1, AR, MAOA, NDP, NSDHL, OCRL, OFD1, PLP1, RBM10, RPS6KA3, SHROOM4, SLC16A2, UPF3B, ZC4H2
Amyloid Polyneuropathology Detection of mutation V30M in the TTR gene
Amyotrophic lateral sclerosis 1 Sanger Sequencing of the SOD1 gene
Amyotrophic lateral sclerosis 11 NGS and Sanger Sequencing of the FIG4 gene
Amyotrophic lateral sclerosis 2, juvenile NGS and Sanger Sequencing of the ALS2 gene
Amyotrophic lateral sclerosis 4, juvenile Next Generation Sequencing and Sanger Sequencing of the SETX gene
Amyotrophic lateral sclerosis 6, autosomal recessive, with or without Sanger Sequencing of the FUS gene
Amyotrophic lateral sclerosis NGS of 25 gene panel: ALS2, ANG, C9orf72, CHMP2B, DAO, DCTN1, ELP3, ERBB4, FIG4, FUS, HNRNPA1, MATR3, OPTN, PFN1, SETX, SIGMAR1, SOD1, SPAST, SPG11, SQSTM1, TAF15, TARDBP, UBQLN2, VAPB, VCP.
Amyotrophy, hereditary neuralgic Sanger Sequencing of the SEPT9 gene
Andermann syndrome Sanger Seq.of exons 11, 15, 18 and 22 of the SLC12A6 gene
Andermann syndrome Sanger Sequencing of the SLC12A6 gene
Andresen-Tawil Syndrome Sanger sequencing of the KCNJ2 gene
Anemia, sideroblastic, 1 Sanger sequencing of the ALAS2 gene
Anemia, sideroblastic, with ataxia Next Generation Sequencing of 2 gene panel: ABCB7, PRNP
Anemia, sideroblastic, with ataxia Sanger Sequencing of the ABCB7 gene
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities Sanger Sequencing of the GATA1 gene
Anemia, sideroblastic and Protoporphyria, erythropoietic NGS of 6 gene panel: ABCB7, ALAS2, FECH, FTMT, PUS1, YARS2
Angelman syndrome Methylation analysis in the PWS/AS genomic region
Angelman syndrome Sanger Sequencing of the UBE3A gene
Angelman syndrome Molecular study using MS-MLPA
Angelman syndrome NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2
Angelman syndrome NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A
Angelman, Angelman syndrome-like, Prader-Willi, Rett y Variant Rett, syndromes NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A
Angelman; Angelman -like; Prader-Willi; Rett; Variant Rett; Mowat-Wilson; Pitt-Hopkins; Christianson; Kleefstra; Smith-Magenis, syndromes NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2
Angiodema, Hereditary, Type III Sanger Sequencing of exon 9 of the F12 gene
Angiodema, Hereditary, Type III Sanger sequencing of the exon 9 of FXII gene.
Angioedema, Inherited type I and II Sanger Sequencing of the SERPING1 gene
Angioedema, Inherited type I and II Detection of deletions and/or duplications in SERPING1.
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle NGS and Sanger Sequencing of the COL4A1 gene
Aniridia Sanger Sequencing and MLPA of the PAX6 gene
Aniridia Detection of deletions and/or duplications in the PAX6 and WT1 genes by MLPA
Antithrombin III deficiency Sanger sequencing of the SERPINC1 gene
Aortic Aneurysm Familial Next Generation Sequencing of 3 gene panel:FBN1, FBN2, TGFBR2
Aortic aneurysm, familial thoracic 4 NGS and Sanger Sequencing of the MYH11 gene
Aortic aneurysm, familial thoracic 7 NGS and Sanger Sequencing of the MYLK gene
Aortic Aneurysm, Familial Thoracic disorder associated with Patent Ductus Next Generation Sequencing of 2 gene panel: ACTA2, MYH11.
Aortic Aneurysm, Familial Thoracic disorder with high risk of dissection Next Generation Sequencing of 8 gene panel: ACTA2, COL3A1, FBN1, MYLK, NOTCH1, SLC2A10, SMAD3, TGFBR2,
Aortic Aneurysm, Familial Thoracic disorder with high risk of dissection Next Generation Sequencing of 8 gene panel: ACTA2, COL3A1, FBN1, MYLK, NOTCH1, SLC2A10, SMAD3,TGFBR2 & Detection of large deletions and/or duplications in the COL3A1, FBN1, and TGFBR2 genes by MLPA
Aortic Aneurysm, Familial Thoracic disorders Next Generation Sequencing of 13 gene panel: ACTA2, COL3A1, EFEMP2, FBLN5, FBN1, FBN2, MYH11, MYLK, NOTCH1, SLC2A10, SMAD3, TGFBR1, TGFBR2
Aortic Aneurysm, Familial Thoracic disorders Next Generation Sequencing of 13 gene panel: ACTA2, COL3A1, EFEMP2, FBLN5, FBN1, FBN2, MYH11,MYLK, NOTCH1, SLC2A10, SMAD3, TGFBR1, TGFBR2 & Detection of large deletions and/or duplications in the COL3A1, FBN1, TGFBR1 and TGFBR2 genes by MLPA
Aortic Aneurysm, Familial Thoracic related to Ehlers-Danlos IV, Marfan, Loeys-Dietz syndromes NGS of 6 gene panel: COL3A1, FBN1, FBN2, SMAD3, TGFBR1, TGFBR2
Aortic Aneurysm, Familial Thoracic related to Ehlers-Danlos IV, Marfan, Loeys-Dietz syndromes NGS of 6 gene panel: COL3A1, FBN1, FBN2, SMAD3, TGFBR1, TGFBR2 and detection of large deletions and/or duplications in the COL3A1, FBN1, TGFBR1 and TGFBR2 genes by MLPA
Aortic valve disease Next Generation Sequencing and Sanger Sequencing of the NOTCH1 gene
Apert syndrome Detection of mutations S252W and P253R in the FGFR2 gene
Arrhythmogenic right and left ventricular dysplasia /cardiomyopathy. NGS of 13 gene panel: DES, DSC2, DSG2, DSP, JUP, PKP2, PKP4, PNN, RPSA, RYR2, TGFB3, TMEM43, TTN
Arrhythmogenic right and left ventricular dysplasia /cardiomyopathy. NGS of 13 gene panel: DES, DSC2, DSG2, DSP, JUP, PKP2, PKP4, PNN, RPSA, RYR2, TGFB3, TMEM43, TTN & Detection of large deletions and/ or duplications in genes, DSP and PKP2 by MLPA
Arrhythmogenic right ventricular dysplasia 11 Sanger Sequencing of the DSC2 gene
Arrhythmogenic right ventricular dysplasia 12 Sanger Sequencing of the JUP gene
Arrhythmogenic right ventricular dysplasia 2 NGS and Sanger Sequencing of the RYR2 gene
Arrythmogenic right ventricular dysplasia Sanger sequencing of PKP2 gene
Arrythmogenic right ventricular dysplasia Sanger sequencing of DSG2 gene
Arrythmogenic right ventricular dysplasia, familial NGS and Sanger sequencing of DSP gene
Arterial calcification, generalized, of infancy, 1 NGS and Sanger Sequencing of the ENPP1 gene
Arterial tortuosity syndrome Sanger Sequencing of the SLC2A10 gene
Arthrogryposis distal, type 1 and 2b Screening of frequent mutations in the TPM2,TNNI2 and TMMT3 genes.
Arthrogryposis Multiplex Congenita Distal Type 1 Sanger Sequencing of the TPM2 gene
Arthrogryposis multiplex congenital, distal, type 2B Screening of the most frequent mutations in the TNNI2 and TNNT3 genes.
Arthrogryposis multiplex congenital, distal, type 2B Complete sequencing of the TNNI3 gene
Arthrogryposis multiplex congenital, distal, type 2B NGS and Sanger sequencing of MYH3 gene
Arthrogryposis multiplex congenital, distal, type 2B Sanger Sequencing of the TNNT3 gene
Arthrogryposis, distal, autosomal dominant Next Generation Sequencing of 6 gene panel: MYBPC1, MYH3, MYH8, TNNI2, TNNT3, TPM2
Arthrogryposis, distal, type 1B NGS and Sanger Sequencing of the MYBPC1 gene
Arthrogryposis, distal, type 2A NGS and Sanger sequencing of MYH3 gene
Arthrogryposis, distal, types 1B, 2A, 2B, 7. Arthrogryposis multiplex congenita, distal, types 1A, 2B, AD, Carney complex variant. Next Generation Sequencing of 6 gene panel: MYBPC1, MYH3, MYH8, TNNI2, TNNT3, TPM2
Arthrogryposis, lethal, with anterior horn cell disease Sanger Sequencing of the GLE1 gene
Arthrogryposis, renal dysfunction, and cholestasis 1 NGS and Sanger Sequencing of the VPS33B gene
Arthrogryposis, renal dysfunction, and cholestasis 2 NGS and Sanger Sequencing of the VIPAS39 gene
Arthrogryposis, renal dysfunction, and cholestasis 1, 2 AR. Arthrogryposis, lethal, with anterior horn cell disease. Lethal congenital contracture syndrome 1, Myosclerosis, congenital, Contractures with Lysyl hydroxylase 3 d Next Generation Sequencing of 5 gene panel: COL6A2, GLE1, PLOD3, VIPAS39, VPS33B
Asphyxiating thoracic dystrophy 2 (Jeune syndrome) NGS and Sanger Sequencing of the IFT80 gene
Asphyxiating thoracic dystrophy 3 NGS and Sanger sequencing of DYNC2H1 gene
Asphyxiating thoracic dystrophy 4 Sanger Sequencing of the TTC21B gene
Asphyxiating thoracic dysplasia (ATD; Jeune) types 2, 3, 4, 5. Next Generation Sequencing of 4 gene panel: DYNC2H1, IFT80, TTC21B, WDR19.
Astrocytoma, Oligoastrocytoma, Oligodendroglioma Sanger sequencing of the IDH2 gene
Ataxia with oculomotor apraxia 1 and 2. Next Generation Sequencing of 3 gene panel: APTX, PIK3R5, SETX
Ataxia related to Arts, Gillespie, SESAME, Christianson & Fragile X tr Next Generation Sequencing of 5 gene panel: FMR1, KCNJ10, PAX6, PRPS1, SLC9A6
Ataxia associated with epilepsy NGS of 4 gene panel: GOSR2, SCARB2, SCN8A, SLC2A1
Ataxia related to Leukodystrophies, Krabbe, Tay Sachs, Pelizaeus-Merzbacher diseases NGS of 8 gene panel: AIMP1, FAM126A, GALC, HEXA, PLP1, POLR3B, SCP2, TUBB4A
Ataxia with polyneuropathy, hearing loss, retinitis pigmentosa, cataract and narcolepsy, neuropathy, hereditary sensory, cerebellar atrophy, intellectual decline, hypogonadism, Optic atrophy or Optic atrophy plus syndrome. NGS of 5 gene panel: ABHD12, DNMT1, FLVCR1, HSD17B4, OPA1.
Ataxia, spastic, 5, autosomal recessive NGS and Sanger Sequencing of the AFG3L2 gene
Ataxia, spastic, 5, autosomal recessive Sanger Sequencing of the AFG3L2 gene
Ataxia, cerebellar, Cayman type, Cerebellar ataxia and mental retardation with or without quadrupedal locomotion NGS of 5 gene panel: ATCAY, ATP8A2, CA8, RUBCN, VLDLR
Ataxia-oculomotor apraxia 1 Sanger sequencing of the APTX gene
Ataxia-oculomotor apraxia 2 Next Generation Sequencing and Sanger Sequencing of the SETX gene
Ataxias related to Joubert, Chediak-Higashi, Refsum, COACH, Marinesco Sjogren syndromes. NGS of 7 gene panel: CEP290, NPHP1, LYST, PHYH, RPGRIP1L, SIL1, TMEM67
Ataxia-telangiectasia NGS of 2 gene panel: ATM, ATR.
Ataxia-telangiectasia & Ataxia-telangiectasia-like disorder, autosomal Next Generation Sequencing of 3 gene panel: ATM, ATR, MRE11A
Ataxia-telangiectasia-like disorder NGS and Sanger Sequencing of the MRE11A gene
Atelosteogenesis, type I NGS and Sanger Sequencing of the FLNB gene
Atelosteogenesis, type I, III, AD, Atelosteogenesis II AR, De la Chapelle dysplasia. Next Generation Sequencing of 2 gene panel: FLNB, SLC26A2
Atelosteogenesis, type III NGS and Sanger Sequencing of the FLNB gene
Atrial Fibrillation Familial Detection of large deletions and/or duplications in the KCNQ1, KCNH2, KCNE2 genes by MLPA
Atrial Fibrillation Familial NGS of 19 gene panel: ABCC9, CACNA1D, GJA1, GJA5, HCN1, KCNA5, KCNE2, KCNE4, KCNE5, KCNH2, KCNJ2, KCNQ1, NPPA, RANGRF, SCN2B, SCN5A, SCN10A, SCNN1B, SCNN1G
Atrial Fibrillation Familial NGS of 19 gene panel: ABCC9, CACNA1D, GJA1, GJA5, HCN1, KCNA5, KCNE2, KCNE4, KCNE5, KCNH2, KCNJ2, KCNQ1, NPPA, RANGRF, SCN2B, SCN5A, SCN10A, SCNN1B, SCNN1G & Detection of large deletions and/ or duplication in genes KCNQ1, KCNH2, KCNE2, SCN5A by MLPA
Atrial Fibrillation Familial Sanger Sequencing of the KCNQ1 gene
Atrial fibrillation, familial, 12 NGS and Sanger sequencing of ABCC9 gene
Atrial septal defect 2 Sanger sequencing of the GATA4 gene
Atrial septal defect 3 NGS and Sanger Sequencing of the MYH6 gene
Autoimmune lymphoproliferative syndrome, type IA Sanger sequencing of the FAS gene
Autoimmune Polyendocrinopathy Syndrome Type 1 Sanger Sequencing of the AIRE gene
Autosomal Recessive and Sporadic Retinitis Pigmentosa Next Generation Sequencing and Sanger Sequencing of the USH2A gene
Autosomal Recessive and Sporadic Retinitis Pigmentosa Mutation panel in genes CERKL, CNGA1, CNGB1, MERTK, PDE6A, PDE6B, PNR, RDH12, RGR, RLBP1, SAG, TULP1, CRB, RPE65,USH2A, USH3A, LRAT, PROML1, PBP3,EYS, ABCA4, AIPL1, CNGA3, CNGB3, GRK1, IMPG2, RHO, RP1
Autosomal Recessive and Sporadic Retinitis Pigmentosa NGS of 56 gene panel: ABCA4, ARL6, BEST1, C2orf71, C8ORF37, CA4, CERKL, CLRN1, CNGA1, CNGB1, CRB1, CRX, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, IDH3B, IMPDH1, IMPG2, KLHL7, LRAT, MAK, MERTK, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF513.
Avascular necrosis of the femoral head NGS and Sanger Sequencing of the COL2A1 gene
Avascular necrosis of the femoral head Large deletions and duplications in the COL2A1 gene by MLPA
Avascular necrosis of the femoral head, AD, Ossification of posterior longitudinal ligament of spine AR, Acrocapitofemoral dysplasia AR, Legg-Calve-Perthes disease Next Generation Sequencing of 3 gene panel: COL2A1, ENPP1, IHH.
Axenfeld-Rieger Syndrome Detection of large deletions and/or duplications in FOXC1 gene by MLPA
Axenfeld-Rieger Syndrome Sanger Sequencing of the FOXC1 gene
Axenfeld-Rieger Syndrome Sanger Sequencing of the PITX2 gene
Axenfeld-Rieger; Otopalatodigital; Velocardiofacial; Speech-language disorder-1; Orofacial cleft 7; Orofaciodigital syndrome; Branchiooculofacial, syndromes NGS of 8 gene panel: FOXC1, PITX2, FLNA, TBX1, FOXP2, PVRL1, TCTN3, TFAP2A
Baller-Gerold syndrome NGS and Sanger Sequencing of the RECQL4 gene
Bardet-Biedl Syndrome Sanger Sequencing of the BBS1 gene
Bardet-Biedl Syndrome Bardet Bield Mutations Detection in 14 genes: BBS1,BBS2,BBS3,BBS4,BBS5,BBS6,BBS7,BBS8,BBS9, BBS10,BBS12,PHF6,ALMS1,GNAS1
Bardet-Biedl syndrome 14 NGS and Sanger Sequencing in the CEP290 gene
Bardet-Biedl type 10, Syndrome Sanger Sequencing of the BBS10 gene
Bardet-Biedl type 6, Syndrome Sanger Sequencing of the MKKS gene
Bartter syndrome type 3 Sanger Sequencing of the CLCNKB gene
Bartter type 4A with neurosensorial hearing loss, Syndrome Sanger Sequencing of the BSND gene
Bartter type 4B, Syndrome Sanger Sequencing of the CLCNKA and CLCNKB gene
Basal cell nevus syndrome Sanger sequencing of the SUFU gene
Basal cell nevus syndrome Sanger sequencing of the PTCH2 gene
Basal cell nevus syndrome, Gorlin syndrome NGS of 2 gene panel: PTCH1, SUFU
Becker, Duchenne, Emery-Dreifuss, Miyoshi muscular dystrophies, autosomal dominant, recessive and X-linked. Next Generation Sequencing of 8 gene panel: ANO5, DMD, DYSF, EMD, FHL1, LMNA, SYNE1, SYNE2.
Beckwith-Wiedemann syndrome Sanger Sequencing of the CDKN1C gene
Beckwith-Wiedemann syndrome Beckwith-Wiedemann S ndrome Study by Uniparental Disomy detection of chromosome 11
Beckwith-Wiedemann syndrome Methylation analysis at KCNQ1OT1 and H19 region
Beckwith-Wiedemann syndrome Methylation analysis in the 11p15 region, H19, IGF2, CDKN1C, KCNQ1 by MLPA
Bent bones dysplasias: Stuve-Wiedemann / Schwartz-Jampel 2, Silverman-Handmaker, Rolland-Desbuquois, Schwartz-Jampel, syndromes. Campomelic dysplasia, Cartilage-hair hypoplasia, Hypophosphatasia, perinatal lethal, infantile Next Generation Sequencing of 7 gene panel: ALPL, GHR, GHSR, HSPG2, LIFR, RMRP, SOX9.
Beta Thalassaemia Sanger Sequencing of the HBB gene
Bethlem myopathy Next Generation Sequencing and Sanger Sequencing of the COL6A2 gene
Bethlem myopathy NGS and Sanger Sequencing of the COL6A1 gene
Bethlem myopathy, Ullrich congenital muscular dystrophy, Myosclerosis, congenital Next Generation Sequencing of 3 gene panel: COL6A1, COL6A2, COL6A3.
Bicuspid aortic valve and Arterial tortuosity Next Generation Sequencing of 4 gene paneL: EFEMP2, FBLN5, NOTCH1, SLC2A10
Biomarkers predictive of response to treatment with Sunitinib or Bevacizumab NGS of 17 gene panel: AKT1, CRK, FRS2, GRB2, ITGAV, MAP2K6, MAPK11, MAP2K4, MAPK3, PGF, PIK3C2A, PRKCE, VEGFA, HIF1A, VEGFB, KDR
Biotinidase deficiency Sanger sequencing of the BTD gene
Birt-Hogg-Dube syndrome Sanger Sequencing of the FLCN gene
Blepharophimosis (B), epicanthus inversus, and ptosis; B-ptosis-intellectual disability syndrome; Say-Barber-Biesecker-Young-Simpson; Genitopatellar; Ohdo; Smith-Lemli-Opitz; Baraitser-Winter syndromes NGS of 7 gene panel: ACTB, ACTG1, DHCR7, FOXL2, KAT6B, MED12, UBE3B
Blepharophimosis, Ptosis and Epicanthus Inversus; BPES Sanger Sequencing of the FOXL2
Blepharophimosis, Ptosis and Epicanthus Inversus; BPES Detection of large deletions and/ or duplications in the FOXL2 gene by MLPA
Bloom syndrome NGS and Sanger Sequencing of the BLM gene
Bohring Opitz syndrome Sanger Sequencing of the ASXL1 gene
Boomerang dysplasia NGS and Sanger Sequencing of the FLNB gene
Borjeson-Forssman-Lehmann syndrome Sanger Sequencing of the PHF6 gene
Brachydactylies (with or without extraskeletal manifestations): Temtamy preaxial brachydactyly syndrome, Guttmacher syndrome, Hand-foot-uterus syndrome, Keutel syndrome, Albright hereditary osteodystrophy (AHO), Brachydactyly Next Generation Sequencing of 5 gene panel: CHSY1, GNAS, HOXA13, MGP, SOX9.
Brachydactyly with Joint dysplasia (Liebenberg syndrome) Sanger Sequencing of the PITX1 gene
Brachydactyly, type A1 Sanger sequencing of the IHH gene
Brachydactyly, TYPE B1 Sanger sequencing of the ROR2 gene
Brachydactyly, types A1, A2, B1, B2, C, D, E, AD. Brachydactyly-syndactyly syndrome. Next Generation Sequencing of 7 gene panel: BMPR1B, GDF5, HOXD13, IHH, NOG, PTHLH, ROR2.
Brachydactyly, types A1, A2, B1, B2, C, D, E, AD. Brachydactyly-syndactyly syndrome. Next Generation Sequencing of 5 gene panel: ESCO2, RECQL4, TP63, TBX15, WNT7A
Brachyolmia type 3 Sanger Sequencing of the TRPV4 gene
Brain small vessel disease with hemorrhage. Angiopathy, hereditary, with nephropathy, aneurysms. and Porencephaly, Bone fragility with contractures, arterial rupture and deafness o Lysyl hydroxylase 3 deficiency., Glomuven Next Generation Sequencing of 5 gene panel: COL4A1, GLMN, PLOD3, SLC2A10, SMAD3
Brain small vessel disease with hemorrhage. Angiopathy, hereditary, with nephropathy, aneurysms. and Porencephaly, Bone fragility with contractures, arterial rupture and deafness o Lysyl hydroxylase 3 deficiency., Glomuven Next Generation Sequencing of 6 gene panel: COL4A1, GLMN, PLOD3, SLC2A10, SMAD3, RASA1
Breast-ovarian cancer, familial NGS and Sanger sequencing to avoid pseudogenes of a panel of 15 genes: BARD1, BRIP1, ATM, CDH1, CHEK2, ERCC4, PALB2, PTEN, RAD51, RAD51C, RAD51D, RECQL, STK11, TP53, XRCC2.
Breast-ovarian cancer, familial NGS and Sanger sequencing to avoid pseudogenes of a panel of 17 genes: BRCA1, BRCA2, BARD1, BRIP1, ATM, CDH1, CHEK2, ERCC4, PALB2, PTEN, RAD51, RAD51C, RAD51D, RECQL, STK11, TP53, XRCC2.
Brooke-Spiegler syndrome Sanger Sequencing of CYLD gene
Bruck Syndrome 2 Next Generation Sequencing and Sanger Sequencing of the PLOD2 gene
Bruck syndrome types 1, 2. (BS1, BS2). Next Generation Sequencing of 2 gene panel: FKBP10, PLOD2.
Brugada syndrome Detection of large deletions and/or duplications in SCN5A gene by MLPA
Brugada syndrome Next Generation Sequencing and Sanger Sequencing of the SCN5A gene
Brugada syndrome NGS of 13 gene panel: CACNA1C, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNE5, KCNJ8, RANGRF, SCN1B, SCN2B, SCN3B, SCN5A
Brugada syndrome NGS of 13 gene panel: CACNA1C, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNE5, KCNJ8, RANGRF, SCN1B, SCN2B, SCN3B, SCN5A and SCN5A gene by MLPA
Brugada syndrome 3 NGS and Sanger Sequencing in the CACNA1C gene
Butyrylcholinesterase Deficiency Sanger Sequencing of the BCHE gene
Caffey disease NGS and Sanger Sequencing of the COL1A1 gene
Campomelic Dysplasia Sanger sequencing of SOX9 gene
Campomelic Dysplasia Detection of large deletions and/or duplications in the SOX9 gene by MLPA
Camurati-Engelmann disease Sanger Sequencing of the TGFB1 gene
C ncer Exome Cancer Exome sequencing 71 Mb
Capillary and Arteriovenous Malformations NGS AND Sanger sequencing of the RASA1 gene
Capillary and Arteriovenous Malformations Detection of large delections or duplications in RASA1 gene
Cardiac arrhythmia, ankyrin-B-related NGS and Sanger Sequencing of the ANK2 gene
Cardiac conduction diseases NGS of 17 gene panel: DES, EMD, GAA, GLA, HCN1, HCN4, KCNA5, KCNQ1, LAMP2, LMNA, MYH6, NKX2-5, PRKAG2, SCN5A, SCN1B, SCN4B, TRPM4
Cardiac valvular dysplasia, X-linked Next Generation Sequencing and Sanger Sequencing of the FLNA gene
Cardiofaciocutaneous and Costello, Syndromes NGS of 5 gene panel: BRAF, HRAS, KRAS, M2K1, MAP2K1
Cardiomyopathy with cardiac conduction disease related to Myofibrill Next Generation Sequencing of 6 gene panel: BAG3, CRYAB, DES, FLNC, LDB3, MYOT.
Cardiomyopathy, dilated Next Generation Sequencing and Sanger Sequencing of the ACTN2 gene
Cardiomyopathy, dilated Next Generation Sequencing and Sanger Sequencing of the MYBPC3 gene
Cardiomyopathy, dilated Next Generation Sequencing and Sanger Sequencing of the MYH7 gene
Cardiomyopathy, dilated Next Generation Sequencing and Sanger Sequencing of the VCL gene
Cardiomyopathy, dilated NGS and Sanger Sequencing of the NEBL gene
Cardiomyopathy, dilated NGS of 44 gene panel: ABCC9, ACTC1, ACTN2, ADRB1, ADRB2, ADRB3, ANKRD1, BAG3, CRYAB, CSRP3, CTF1, DES, DMD, DSG2, EYA4, FHL2, FKTN, FKRP, ILK, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD,TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN,VCL
Cardiomyopathy, dilated NGS of 44 gene panel: ABCC9, ACTC1, ACTN2, ADRB1, ADRB2, ADRB3, ANKRD1, BAG3, CRYAB, CSRP3, CTF1, DES, DMD, DSG2, EYA4, FHL2, FKRP, FKTN, ILK, LAMA4, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEBL, NEXN, PLN, PSEN1, PSEN2, RBM20, SCN5A, SDHA, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, & detection of large deletions or duplication in genes BAG3, MYBPC3, TNNT2 by MLPA
Cardiomyopathy, dilated with arrhythmia and/or cardiac conduction defect Next Generation Sequencing of 5 gene panel: EMD, FHL1, LMNA, SYNE1, SYNE2.
Cardiomyopathy, dilated, 1BB Sanger sequencing of DSG2 gene
Cardiomyopathy, dilated, 1D Sanger Sequencing of the TNNT2 gene
Cardiomyopathy, dilated, 1EE NGS and Sanger Sequencing of the MYH6 gene
Cardiomyopathy, dilated, 1FF Sanger Sequencing of the TNNI3 gene
Cardiomyopathy, dilated, 1G NGS and Sanger Sequencing of the TTN gene
Cardiomyopathy, dilated, 1J NGS and Sanger Sequencing of the EYA4 gene
Cardiomyopathy, dilated, 2A Sanger Sequencing of the TNNI3 gene
Cardiomyopathy, Familial Next Generation Sequencing of 90 gene panel: ABCC9, ACTC1, ACTN2, ADRB1, ADRB2, ADRB3, AGL, ANK2, ANKRD1, BAG3, BRAF, CALR3, CAV3,CBL, CRYAB,CSRP3,CTF1,DES,DMD,DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FHL2, FKTN, FLNC, FXN, GAA,GLA, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2 MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEBL,NEXN, NRAS, PDLIM3, PKP2, PKP4, PLEC, PLN, PNN, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RPSA, RYR2, SCN5A, SDHA, SGCD, SHOC2, SLC25A4, SOS1, SPRED1, SYNE1, SYNE2, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL
Cardiomyopathy, familial hypertrophic, 2 Sanger Sequencing of the TNNT2 gene
Cardiomyopathy, familial hypertrophic, 9 NGS and Sanger Sequencing of the TTN gene
Cardiomyopathy, familial restrictive, 1 Sanger Sequencing of the TNNI3 gene
Cardiomyopathy, familial restrictive, 3 Sanger Sequencing of the TNNT2 gene
Cardiomyopathy, hypertrophic, 7 Sanger Sequencing of the TNNI3 gene
Carney complex variant NGS and Sanger Sequencing of the MYH8 gene
Carney complex variant Sanger sequencing of the PRKAR1A gene
Cartilage-Hair Hypoplasia Sanger Sequencing of the RMRP gene
Carvajal, Syndrome NGS and Sanger sequencing of DSP gene
Cataract, autosomal recessive NGS of 12 gene panel: CRYAA, CRYAB, CRYBB1, CRYBB3, FYCO1, GCNT2, GJA8, HSF4, LIM2, SIL1, TDRD7, AGK
Celiac disease Determination of the genotype HLA DQ2, DQ8
Cenani-Lenz syndactyly syndrome NGS and Sanger Sequencing of the LRP4 gene
Central Hypoventilation Syndrome, Congenital Expansion detection in the PHOX2B gene
Central Hypoventilation Syndrome, Congenital NGS of 6 gene panel: ASCL1, BDNF, EDN3, GDNF, PHOX2B, RET
Centronuclear myopathy with / without ophthalmoplegia, autosomal dominant, autosomal recessive, X-linked. Next Generation Sequencing of 4 gene panel: BIN1, DNM2, MTM1, RYR1
Centronuclear myopathy, autosomal, modifier of Sanger sequencing of the MTMR14 gene
Cerebellar hypoplasia and mental retardation with or without quadruped Sanger Sequencing of the VLDLR gene
Cerebellar hypoplasia and mental retardation with or without quadruped NGS of 11 gene panel: ATP8A2, CA8, CASK, DLG1, GAD1, GCK, IGF1, KANK1, MECP2, VLDLR, WDR81
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Sanger Sequencing of the NOTCH3 gene
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Mutations in exons 2, 3 and 4 of the NOTCH3 gene
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Mutations in exons 5, 6 and 11 of the NOTCH3 gene
Cerebral cavernous malformations Sanger Sequencing of the PDCD10 gene
Cerebral creatine deficiency NGS of 3 gene panel: GAMT, GATM, SLC6A8
Cerebral folate transport deficiency NGS of 2 gene panel: FOLR1, FUCA1
Ceroid lipofuscinosis, neuronal, 4, Parry type Sanger Sequencing of the DNAJC5 gene
Ceroid lipofuscinosis NGS of 10 gene panel: ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, MFSD8, PPT1, TPP1.
Channelopathies associated with epilepsy NGS of 41 gene panel: CACNA1A, CACNA2D2, CACNB4, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLCN4, GABRA1, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GABRG3, HCN1, HCN2, HCN3, HCN4, KCNA2, KCNAB1, KCNB1, KCNC1, KCNH2, KCNH5, KCNJ1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCN8A, SCN9A.
Charcot-Marie-Tooth disease, axonal, type 20 NGS and Sanger Sequencing of the DYNC1H1 gene
Charcot-Marie-Tooth disease, axonal, type 2M Sanger Sequencing of the DNM2 gene
Charcot-Marie-Tooth disease, axonal, type 2N NGS and Sanger Sequencing of the AARS gene
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis Sanger Sequencing of the GDAP1 gene
Charcot-Marie-Tooth disease, dominant intermediate B Sanger Sequencing of the DNM2 gene
Charcot-Marie-Tooth disease, recessive intermediate, A Sanger Sequencing of the GDAP1 gene
Charcot-Marie-Tooth disease, recessive intermediate, B Sanger Sequencing of the KARS gene
Charcot-Marie-Tooth Disease, type 1, demyelinating, autosomal dominant Next Generation Sequencing of 7 gene panel: ARHGEF10, EGR2, GDAP1, LITAF, MPZ, NEFL, PMP22
Charcot-Marie-Tooth disease, type 1A Sanger Sequencing of the PMP22 gene
Charcot-Marie-Tooth disease, type 1A Duplication detection of the PMP22 gene by MLPA
Charcot-Marie-Tooth disease, type 1B Sanger Sequencing of the MPZ gene
Charcot-Marie-Tooth disease, type 2A1 NGS and Sanger Sequencing of the KIF1B gene
Charcot-Marie-Tooth disease, type 2A2 Sanger Sequencing of MFN2 gene
Charcot-Marie-Tooth disease, type 2B1 Sanger Sequencing of the LMNA gene
Charcot-Marie-Tooth disease, type 2B2 Sanger Sequencing of the MED25 gene
Charcot-Marie-Tooth disease, type 2D Sanger Sequencing of the GARS gene
Charcot-Marie-Tooth disease, type 4A Sanger Sequencing of the GDAP1 gene
Charcot-Marie-Tooth Disease, Type 4B1 Sanger sequencing of the MTMR2 gene
Charcot-Marie-Tooth disease, type 4B2 NGS and Sanger Sequencing of the SBF2 gene
Charcot-Marie-Tooth disease, type 4C Sanger Sequencing of the SH3TC2 gene
Charcot-Marie-Tooth disease, type 4D Detection of mutation c.442C>T in the NRDG1 gene
Charcot-Marie-Tooth disease, type 4D Sequencing of the NDRG1 gene
Charcot-Marie-Tooth disease, type 4F Sanger sequencing of the PRX gene
Charcot-Marie-Tooth disease, type 4H Sanger Sequencing of the FGD4 gene
Charcot-Marie-Tooth disease, type 4J NGS and Sanger Sequencing of the FIG4 gene
Charcot-Marie-Tooth disease, types 1D and 4E Sanger Sequencing of the EGR2 gene
Charcot-Marie-Tooth disease, types 4A, 2K, 2C NGS of 2 gene panel: GDAP1, TRPV4
Charcot-Marie-Tooth disease, X-linked type Sanger Sequencing of the GJB1 gene (Connexin 32)
Charcot-Marie-Tooth Neuropathy Type 1C Sanger Sequencing of the LITAF gene
Charcot-Marie-Tooth Neuropathy Type 2K Sanger Sequencing of the GDAP1 gene
Charcot-Marie-Tooth Disease NGS of 49 gene panel: AARS, AIFM1, ARHGEF10, C12orf65, DHTKD1, DNAJB2, DNM2, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GARS, GDAP1, GDAP1L1, GJB1, GNB4, HADHB, HK1, HSD17B4, HSPB1, HSPB8, IGHMBP2, INF2, KARS, KIF1B, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, SURF1, TRIM2, TRPV4, YARS.
Charcot-Marie-Tooth Disease, dominant and recessive intermediate. NGS of 8 gene panel: DNM2, GDAP1, GNB4, INF2, KARS, MPZ, PLEKHG5, YARS.
Charcot-Marie-Tooth Disease, type 2, axonal, autosomal dominant NGS of 17 gene panel: AARS, DHTKD1, DNM2, DYNC1H1, GARS, GDAP1, HSPB1, HSPB8, KIF1B, LRSAM1, MARS, MFN2, MPZ, NEFL, RAB7A, TRPV4, YARS.
Charcot-Marie-Tooth Disease, type 2, axonal, autosomal recessive with vocal cord paresis NGS of 10 gene panel: C12orf65, DNAJB2, GDAP1, GDAP1L1, HADHB, IGHMBP2, LMNA, LRSAM1, MED25, TRIM2.
Charcot-Marie-Tooth Disease, type 4, demyelinating, autosomal recessive. NGS of 16 gene panel: EGR2, FGD4, FIG4, GDAP1, GDAP1L1, HK1, HSD17B4, MPZ, MTMR2, NDRG1, NEFL, PRX, SBF1, SBF2, SH3TC2, SURF1.
Charcot-Marie-Tooth Disease, X-Linked NGS of 4 gene panel: AIFM1, GJB1, PDK3, PRPS1.
Charcot-Marie-Toothe disease, axonal, type 2P NGS and Sanger Sequencing of the LRSAM1 gene
CHARGE Syndrome Sanger Sequencing of CHD7 gene
CHARGE Syndrome Large deletion and duplication detection in the CHD7 gene by MLPA
Chediak-Higashi syndrome NGS + Sanger Sequencing of the LYST gene
Cholestasis, intrahepatic and Alagille syndrome NGS of 4 gene panel: ABCB11, ATP8B1, ABCB4, JAG1.
Cholestasis, Progressive Familial Intrahepatic Type 1 Sanger Sequencing of the ATP8B1 gene
Cholestasis, Progressive Familial Intrahepatic Type 2 Sanger Sequencing of the ABCB11 gene
Cholestasis, Progressive Familial Intrahepatic Type 3 Sanger Sequencing of the ABCB4 gene
Chondrodysplasia punctata, rhizomelic, type 2 Sanger Sequencing of the GNPAT gene
Chondrodysplasia punctata (CDP) group: CDP, types 1, 2, 3; Greenberg dysplasia, autosomal recessive; CDP with joint dislocations, GRAPP type; CDP, brachytelephalangic type, X-linked recessive. CDP, Conradi-H nermann type; Next Generation Sequencing of 7 gene panel: AGPS, ARSE, EBP, GNPAT, IMPAD1, LBR, PEX7.
Chondrosarcoma Large deletion and duplication detection in the EXT1 and TRSP1 genes by MLPA
Chorea, hereditary benign Sanger secuencing of the NKX2-1 gene
Chorea, hereditary benign, Choreoathetosis, Basal ganglia calcification, Choreoacanthocytosis, Tremor, hereditary, McLeod syndrome NGS of 6 gene panel: FUS, NKX2-1, PDGFB, PTS, VPS13A, XK
Choreoacanthocytosis NGS and Sanger sequencing of the VPS13A gene
Chronic Granulomatous Disease Detection of large deletions and/or duplications in the CYBA gene by CGH array
Chronic Granulomatous Disease Detection of mutation c.75 76delGT in the NCF1 gene
Chudley-McCullough syndrome Sanger Sequencing of the GPSM2 gene
CINCA syndrome Sequencing of exon 4 of the NLRP3 gene
CINCA syndrome Sanger Sequencing of the NLRP3 gene
c-Kit mutations Sanger Seq. of exons 9, 11, 13 and 17 of the cKit gene
Cleidocranial Dysplasia Sanger Sequencing of the RUNX2 gene
Cleidocranial dysplasia and isolated cranial ossification defects group: Cleidocranial dysplasia, Parietal foramina Next Generation Sequencing of gene panel: ALX4, MSX2, RUNX2.
Cleidocranial dysplasia and isolated cranial ossification defects group: Cleidocranial dysplasia, Parietal foramina Detection of deletions and/or duplications in genes ALX4, MSX2 and RUNX2 by MLPA
Clinical and biological interpretation of molecular studies by NGS up to 15 variants Clinical and biological interpretation of molecular studies by NGS up to 15 variants.
Clinical and biological interpretation of molecular studies by NGS up to 5 variants. Clinical and biological interpretation of molecular studies by NGS up to 5 variants.
Clinical and biological interpretation of molecular studies by Sanger sequencing Clinical and biological interpretation of molecular studies by Sanger sequencing.
Clinical Exome Sequencing for diagnosis. Clinical Exome trio with report of clinically relevant findings
Clinical Exome Sequencing for diagnosis. Clinical Exome duo with report of clinically relevant findings
Clinical Exome Sequencing for diagnosis. Clinical Exome single with report of clinically relevant findings
Clinical Exome Sequencing for diagnosis. Extension of clinical exome analysis to variants of uncertain significance.
Clinical Exome Sequencing for diagnosis. Extension of exome analysis to relevant variants located in research genes.
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly Sanger Sequencing of the PITX1 gene
CMT disease:Screening frequent mutations in Gypsie populations Detection of mutations:p.C737X and p.R1109X in SH3TC2 gene, p.R148X in NDRG1 gene and c.-40237G>C in HK1 gene
COACH syndrome NGS and Sanger Sequencing of the RPGRIP1L gene
COACH syndrome Sanger sequencing of the TMEM67 gene
Cockayne syndrome, type B Sanger Sequencing of the ERCC6 gene
Coenzyme Q10 deficiency, primary, 4 Sanger Sequencing of the ADCK3 gene
Coenzyme Q10 deficiency, primary. Next Generation Sequencing of 5 gene panel: ADCK3, COQ2, COQ9, PDSS1, PDSS2.
Coenzyme Q10 deficiency, primary NGS of 7 gene panel: ADCK3, COQ2, COQ4, COQ6, COQ9, PDSS1, PDSS2
Coffin-Lowry syndrome Sanger Sequencing of the RPS6KA3 gene
Coffin-Lowry syndrome Detection of large deletions and/or duplications in the RPS6KA3 gene by MLPA
Coffin-Siris syndrome; Hyperphosphatasia with mental retardation syndrome NGS of 8 gene panel: ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, PGAP2, PIGO, PIGV
Cognitive impairment with or without cerebellar ataxia NGS and Sanger Sequencing of the SCN8A gene
Cohen Syndrome Sanger Sequencing of exon 23 of the VPS13B gene
Cohen Syndrome Sanger Sequencing of the VPS13B (COH1) gene
Cohen Syndrome Detection of large deletions and/or duplications in the VPS13B gene by MLPA
Coloboma, ocular, autosomal recessive Sanger sequencing of the SALL2 gene
Colorectal adenomatous polyposis Next Generation Sequencing of 3 gene panel: APC, AXIN2, MUTYH + APC by MLPA
Colorectal adenomatous polyposis Detection of the p.(Glu1309Aspfs*4), p.(Gln1062*), p.(Arg213*), p.(Ser1068Glyfs*57) mutations in the APC gene
Colorectal adenomatous polyposis, autosomal recessive Detection of large deletions and/or duplications in the MUTYH gene by MLPA
Colorectal adenomatous polyposis, autosomal recessive, with pilomatric Sanger sequencing of the MUTYH gene
Colorectal cancer Colon cancer screening test by MS9
Colorectal cancer Pyrosequencing of codons 12 and 13 of the KRAS gene
Colorectal cancer Sanger sequencing of the codons 12, 13, 58, 59,61, 117, 146 of KRAS, NRAS genes.
Colorectal cancer Pyrosequencing of the codons 12, 13, 58, 59,61, 117, 146 of KRAS, NRAS genes.
Colorectal cancer Pyrosequencing of the codons 12, 13, 58, 59,61, 117, 146 of KRAS gene.
Colorectal cancer Sanger sequencing of the codons 12, 13, 58, 59,61, 117, 146 of KRAS gene.
Colorectal cancer Pyrosequencing of the codons 12, 13, 58, 59,61, 117, 146 of NRAS gene.
Colorectal cancer Sanger sequencing of codons 12, 13, 58,59,61, 117 and 146 of the NRAS gene.
Colorectal cancer, hereditary nonpolyposis Detection of large deletions and/or duplications in the MSH6 and PMS2 genes by MLPA
Colorectal cancer, hereditary nonpolyposis NGS of 3 gene panel: MLH1, MSH2, MSH6
Colorectal cancer, hereditary nonpolyposis NGS of 5 gene panel: EPCAM, MLH1, MSH2, MSH6,PMS1
Colorectal cancer, hereditary nonpolyposis NGS of 4 gene panel: MLH1, MSH2, MSH6, PMS1 and detection of deletions/duplications MLH1, MSH2,EPCAM and MSH6 by MLPA
Colorectal cancer, hereditary nonpolyposis, type 1 Sanger Sequencing of the MSH2 gene
Colorectal cancer, hereditary nonpolyposis, type 2 Microsatellite instability analysis
Colorectal cancer, hereditary nonpolyposis, type 2 Sanger Sequencing of the MLH1 gene
Colorectal cancer, hereditary nonpolyposis, type 2 Detection of large deletions and/or duplications in the MLH1 and MSH2 genes by MLPA
Colorectal cancer, hereditary nonpolyposis, type 2 Detection of large deletions and/or duplications in PMS2 gene by MLPA
Colorectal cancer, hereditary nonpolyposis, type 2 Methylation analysis in the MLH1 and MSH2 genes by MS-MLPA
Colorectal cancer, hereditary nonpolyposis, type 2 Detection of the V600E mutation in the BRAF gene
Colorectal cancer, hereditary nonpolyposis, type 2 Detection of deletions and/or duplications in MLH1 gene by MLPA.
Colorectal cancer, hereditary nonpolyposis, type 2 Methylation analysis in the MLH1 genes by MS-MLPA
Colorectal cancer, hereditary nonpolyposis, type 2 Detection of deletions and/or duplications in MSH2/EPCAM gene by MLPA.
Colorectal cancer, hereditary nonpolyposis, type 2 Detection of deletions and/or duplications in MSH6 gene by MLPA.
Colorectal cancer, hereditary nonpolyposis, type 4 Sanger Sequencing of the PMS2 gene
Colorectal cancer, hereditary nonpolyposis, type 5 Sanger sequencing of the MSH6 gene
Colorectal cancer, susceptibility to, 10 Sanger Sequencing of the POLD1 gene
Colorectal cancer, hereditary nonpolyposis NGS of 8 gene panel: BUB1, EPCAM, MLH1, MSH2, MSH6, PMS1, POLD1, POLE and MLPA confirmation of CNVs previously detected in EPCAM gene
Combined Dystonias plus parkinsonism, myoclonus and other dyskinesia NGS of 13 gene panel: ACTB, ADCY5, ATP1A3, COX20, GCH1, PRRT2, SCP2, SGCE, SLC2A1, SLC6A3, SPR, TAF1, TH.
Combined oxidative phosphorylation deficiency NGS of 22 gene panel: AARS2, AIFM1, C12orf65, EARS2, ELAC2, FARS2, GFM1, LYRM4, MARS2, MRPL3, MRPL44, MRPS16, MRPS22, MTFMT, MTO1, PNPT1, RMND1, SFXN4, TARS2, TSFM, TUFM, VARS2.
Common test of all diseases Genetic counseling consultation
Common test of all diseases Detection of specific mutations
Common test of all diseases Detection mutations
Common test of all diseases Mutations validation
Common test of all diseases Study of prenatal maternal contamination
Cone-Rod Dystrophy NGS of 32 gene panel: ABCA4, ADAM9, AIPL1, BEST1, CABP4, CACNA1F, CACNA2D4, CDHR1, CERKL, CNGB3, CNNM4, C8ORF37, CRX, GNAT2, GUCA1A, GUCY2D, KCNV2, PDE6C, PDE6H, PITPNM3, PROM1, PRPH2, RAB28, RAX2, RDH5, RGS9, RGS9BP, RIMS1, RPGR (ORF15 excluded), RPGRIP1, SEMA4A, UNC119.
Confirmation of the effect of Specific Mutation in mRNA Sequencing of a specific fragment of complementary DNA corresponding to messenger RNA by RT-PCR
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency Detection of the most frequent mutations on the CYP21A2 gene (including MLPA)
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency Sanger sequencing of the CYP21A2 gene
Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency Detection of large deletions and/or duplications in the CYP21A2 gene by MLPA
Congenital amegakaryocytic thrombocytopenia Sanger sequencing of exon 12 of the MPL gene
Congenital bilateral absence of vas deferens Detection of the poli-T polymorphism, associated with male infertility
Congenital contractural arachnodactyly (Beals Syndrome) Next Generation Sequencing and Sanger Sequencing of the FBN2
Congenital disorder of glycosylation, type Ia Sanger Sequencing of the PMM2 gene
Congenital disorder of glycosylation, type Ip Sanger Sequencing of the ALG11 gene
Congenital Dyskeratosis NGS of 3 gene panel: DKC1, TERT, NOP10
Congenital Fiber-Type Disproportion Sanger Sequencing of the ACTA1 gene
Congenital Fiber-Type Disproportion Sanger Sequencing of the SEPN1 gene
Congenital Fiber-Type Disproportion Sanger Sequencing of the TPM3 gene
Congenital Heart Diseases NGS of 18 gene panel: ACTC1, BMPR2, CFC1, ELN, G6PC3, GATA4, GATA6, GDF1, GJA1, JAG1, MYH6, NKX2-3, NKX2-5, NKX2-6, RBM10, TBX1, TBX20, TLL1
Congenital Hypothyroidism, Nongoitrous 1 Sanger sequencing of the TSHR gene
Congenital Insensitivity to Pain with Anhidrosis Sanger Sequencing of the NTRK1 gene
Congenital myasthenic syndrome Sanger Sequencing of the CHAT gene
Congenital Neutropenia NGS of 3 gene panel: ELANE, GFI1, WAS
Congenital Nystagmus X-linked Sanger Sequencing of the FRMD7 gene
Congenital Stationary Night Blindness NGS of 13 gene panel: CABP4, CACNA1F, CHM, GNAT1, GRK1, GRM6, NYX, PDE6B, RDH5, RHO, SAG, SLC24A1, TRPM1.
Congenital disorder of glycosylation with epilepsy NGS of 4 gene panel: LG13, PMM2, RFT1, SLC35A2
Congenital disorder of glycosylation, type I NGS of 15 gene panel: ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DPAGT1, DPM1, DPM3, MPDU1, MPI, PMM2, RFT1, SRD5A3.
Congenital disorder of glycosylation, type II and Wrinkly skin syndrome NGS of 10 gene panel: ATP6V0A2, B4GALT1, COG1, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35C1, TUSC3
Coproporphyria, hereditary Sanger Sequencing of the CPOX gene
Corneal dystrophy polymorphous posterior, 2 Sanger Sequencing of the COL8A2 gene
Corneal dystrophy, epithelial basement membrane Sanger sequencing of the TGFBI gene
Corneal dystrophy, Fuchs endothelial, 1 Sanger Sequencing of the COL8A2 gene
Cornelia de Lange Syndrome Sanger Sequencing of the NIPBL gene
Cornelia de Lange Syndrome Detection of deletions and/or duplications in NIPBL gene by MLPA.
Cornelia de Lange Syndrome NGS of 5 gene panel: HDAC8, NIPBL, RAD21, SMC1A, SMC3
Cornelia de Lange syndrome 2 Sanger Sequencing of the SMC1A gene
Cornelia de Lange type 3 Syndrome Sanger Sequencing of the SMC3 gene
Coronary Arteries Disease Next Generation Sequencing of 2 gene panel: LRP6, MEF2A
Coronary heart disease NGS of 11 gene panel: ABCA1, ABCC6, APOA1,APOB, APOE, ENPP1, LDLR, LPL, LRP6, MEF2A, PCSK9
Corpus callosum, partial agenesis of Sanger Sequencing of the L1CAM gene
Cortical dysplasia an other CNS malformations NGS of 13 gene panel: ATP7A, ARFGEF2, CNTNAP2, DEPDC5, ERMARD, FLNA, KIF2A, KIF5C, STAMBP, TUBB, TUBB2A, TUBB3, TUBG1
Costello Syndrome Sanger Sequencing of exon 2 of the HRAS gene
Costello Syndrome Sanger Sequencing of the HRAS gene
Cowden syndrome Sanger Seq. of exons 1 to 9 of the PTEN gene
Cowden syndrome Sanger sequencing of the PTEN gene
Cowden syndrome Detection of large deletions and/or duplications in PTEN gene
CPT deficiency, hepatic, type II Sanger sequencing of the CPT2
CPT II deficiency, lethal neonatal Sanger sequencing of the CPT2
Cranioectodermal dysplasia 2 Sanger sequencing of the WDR35 gene
Craniofacial-deafness-hand syndrome Sanger Sequencing of the PAX3 gene
Craniofacial-deafness-hand syndrome Detection of large deletions and/or duplications in the PAX3 gene by MLPA
Craniometaphyseal dysplasia Sanger Sequencing of exons 7, 8, 9 and 10 of the ANKH gene
Craniometaphyseal dysplasia Sanger Sequencing of the ANKH gene
Craniosynostosis Sanger Sequencing of the TWIST1 gene
Craniosynostosis Detection of Pro250Arg mutation in FGFR3 gene
Craniosynostosis Mutation screening in exons 8 and 10 of FGFR2 gene
Craniosynostosis NGS of 3 genes: EFNB1, MSX2, TWIST1
Craniosynostosis syndromes: Baller-Gerold syndrome, Robinow-Sorauf syndrome, Saethre-Chotzen syndrome with eyelid anomalies, Saethre-Chotzen syndrome, Pfeiffer 1 syndrome, Craniosynostosis Boston type, Craniosynostosis Next Generation Sequencing of 4 gene panel: IL11RA, MSX2, RECQL4, TWIST1.
CRASH syndrome Sanger Sequencing of the L1CAM gene
Creutzfeldt-Jakob disease Next Generation Sequencing of 2 gene panel: ABCB7, PRNP
Cri du Chat Syndrome Detection of the 5p15 deletion by FISH
Crigler-Najjar syndrome Sanger Sequencing of the UGT1A1 gene
Crigler-Najjar Syndrome, Type II Sanger Sequencing of the UGT1A1 gene
Crisponi Syndrome Sanger Sequencing of the CRLF1 gene
Crouzon, Syndrome Mutation screening in exons 8 and 10 of FGFR2 gene
Custom Panel Report and variant verification up to 5 genes.
Custom Panel Report and variant verification up to 22 genes.
Custom Panel Report and variant verification more than 49 genes
Custom Panel Report and variant verification up to 99 genes
Custom Panel Report and variant verification more than 99 genes
Custom Panel NGS, Advanced Bioinformatics analysis and results delivery through Genesys.
Custom Panel NGS, Advanced Bioinformatics analysis and Report and variant verification up to 5 genes.
Custom Panel NGS, Advanced Bioinformatics analysis and Report and variant verification up to 22 genes.
Custom Panel NGS, Advanced Bioinformatics analysis and Report and variant verification up to 49 genes.
Custom Panel NGS, Advanced Bioinformatics analysis and Report and variant verification up to 99 genes.
Custom Panel NGS, Advanced Bioinformatics analysis and Report and variant verification more than 99 genes.
Custom Panel NGS, Advanced Bioinformatics analysis and Report and variant verification one gen.
Cutaneous telangiectasia and cancer syndrome, familial NGS and Sanger Sequencing of the ATR gene
Cutis laxa 1,2 AD, Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities. Cutis laxa, AR, type IB, IA, IIB, IIIB. Next Generation Sequencing of 5 gene panel: EFEMP2, ELN, FBLN5, LTBP4, PYCR1
Cutis Laxa autosomal dominant Next Generation Sequencing and Sanger Sequencing of the ELN gene
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Sanger Sequencing of the LTBP4 gene
Cystic Fibrosis Sanger Sequencing of the CFTR gene
Cystic Fibrosis Detection of all possible CFTR gene mutations with frequencies higher than 1% in the Spanish population
Cystic Fibrosis Panel of 50 mutations and sequencing of exons and intronic regions where these mutations are contained in the CFTR gene
Cystic Fibrosis Detection of deletions and/or duplications in the CFTR gene by MLPA.
Cystic Fibrosis NGS and Sanger sequencing of the CFTR gene
Czech dysplasia NGS and Sanger Sequencing of the COL2A1 gene
Czech dysplasia Large deletions and duplications in the COL2A1 gene by MLPA
Darier-white disease Sanger Sequencing of the ATP2A2 gene
D-bifunctional protein deficiency Sanger Sequencing of HSD17B4 gene
Deafness autosomal dominant NGS of 27 gene panel: ACTG1, CCDC50,CEACAM16,COCH, COL11A2, CRYM, DFNA5, DIAPH1, EYA4, GJB2, GJB3, GJB6, GRHL2, KCNQ4, MIR96, MYH14, MYH9, MYO1A, MYO6, MYO7A, POU4F3, SLC17A8, DIABLO, TECTA, TJP2, TMC1, WFS1
Deafness autosomal recessive NGS of 44 gene panel: BSND, CABP2, CDH23, CIB2, CLDN14, COL11A2, DFNB59, ESRRB, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, HGF, ILDR1, LHFPL5,LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A,MYO3A,MYO6,MYO7A, OTOF, OTOG, OTOGL, PCDH15, PNPT1, PTPRQ, RDX, SE, RPINB6, SLC26A4, SLC26A5, TECTA, TMC1, TMIE,TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, DFNB31.
Deafness X-linked Next Generation Sequencing of 3 gene panel: POU3F4, PRPS1, SMPX
Deafness, autosomal dominant 10 NGS and Sanger Sequencing of the EYA4 gene
Deafness, autosomal dominant 11 NGS and Sanger Sequencing of the MYO7A gene
Deafness, autosomal dominant 22 NGS and Sanger Sequencing of the MYO6 gene
Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy NGS and Sanger Sequencing of the MYO6 gene
Deafness, autosomal dominant 28 Sanger Sequencing of the GRHL2 gene
Deafness, autosomal dominant 36 NGS and Sanger Sequencing of the TMC1 gene
Deafness, autosomal dominant 48 NGS and Sanger Sequencing of the MYO1A gene
Deafness, autosomal dominant 4A NGS and Sanger Sequencing of the MYH14 gene
Deafness, autosomal recessive 12 NGS and Sanger Sequencing in the CDH23 gene
Deafness, autosomal recessive 18 Sanger Sequencing of the USH1C gene
Deafness, autosomal recessive 2 NGS and Sanger Sequencing of the MYO7A gene
Deafness, autosomal recessive 23 NGS and Sanger Sequencing of the PCDH15 gene
Deafness, autosomal recessive 23 Detection of deletions and/or duplications in PCDH 15 gene by MLPA
Deafness, autosomal recessive 24 Sanger Sequencing of the RDX gene
Deafness, autosomal recessive 3 NGS and Sanger Sequencing of the MYO15A gene
Deafness, autosomal recessive 30 NGS and Sanger Sequencing of the MYO3A gene
Deafness, autosomal recessive 37 NGS and Sanger Sequencing of the MYO6 gene
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct Sanger Sequencing of the SLC26A4 gene
Deafness, Autosomal Recessive 53 Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene
Deafness, autosomal recessive 61 Sanger sequencing of the SLC26A5 gene
Deafness, autosomal recessive 7 NGS and Sanger Sequencing of the TMC1 gene
Deafness, autosomal recessive 77 NGS and Sanger Sequencing of the LOXHD1 gene
Deafness, autosomal recessive 84 NGS and Sanger Sequencing of the PTPRQ gene
Deafness, nonsyndromic sensorineural autosomal recessive (DFNB1) Detection of the 35delG mutation in the GJB2 gene (Connexin 26)
Deafness, nonsyndromic sensorineural autosomal recessive (DFNB1) Sequencing of the GJB2 gene
Deafness, nonsyndromic sensorineural autosomal recessive (DFNB1) Detection of deletions AGJB6-D13S1830 and AGJB6-D13S1854
Deafness, nonsyndromic sensorineural autosomal recessive type 21 Next Generation Sequencing and Sanger Sequencing of the TECTA gene
Deafness,autosomal recessive 9 and AR Auditory neuropathy type I NGS and Sanger Sequencing of the OTOF gene
Defects ?-oxidation of fatty acids: Adrenoleukodystrophy, Peroxisomal acyl-CoA oxidase deficiency, D-bifunctional protein deficiency, Leukoencephalopathy with dystonia and motor neuropathy, Alpha-methylacyl-CoA racemase defi NGS of 6 gene panel: ABCD1, ACOX1, ACSL4, AMACR, HSD17B4, SCP2.
Defects ?-oxidation of fatty acids: Refsum disease, Phytanoyl-CoA hydroxilase NGS of 2 gene panel: PHYH, PEX7.
Defects in joint formation and synostoses: Multiple synostoses syndrome type 1, 2, 3. Proximal symphalangism type 1, 2. Radio-ulnar synostosis with amegakaryocytic thrombocytopenia, Stapes ankylosis with broad thumb and toes, Next Generation Sequencing of 6 gene panel: FGF9, FLNB, GDF5, HOXA11, NOG, TTR.
Defects in joint formation and synostoses: Multiple synostoses syndrome type 1, 2, 3. Proximal symphalangism type 1, 2. Radio-ulnar synostosis with amegakaryocytic thrombocytopenia, Stapes ankylosis with broad thumb and toes, Sequencing of the IKBKAP gene
Dejerine-Sottas syndrome Sanger Sequencing of the PMP22 gene
Dejerine-Sottas syndrome Sanger Sequencing of the MPZ gene
Dejerine-Sottas syndrome Next Generation Sequencing of 4 gene panel: EGR2, MPZ, PMP22, PRX
Dementia, familial British and Danish, Cognitive impairment with or without cerebellar ataxia & Frontotemporal lobar degeneration autosomal dominant. Next Generation Sequencing of 3 gene panel: ITM2B, SCN8A, TARDBP
Dementia, Lewy body Sanger Sequencing of the SNCA gene
Dementia, Lewy body Detection of large deletions and/or duplications in the SNCA gene by MLPA
Dementia, familial British and Danish, Nasu-Hakola & Frontotemporal lobar degeneration with or without parkinsonism. NGS of 19 gene panel: ATP6AP2, C9orf72, CHMP2B, CSF1R, DNMT1, GBA, GRN, HNRNPA2B1, ITM2B, MAPT, NOTCH3, PSEN1, SNCA, SNCB, TIMM8A, TREM2, TYROBP, UBQLN2, VCP.
Dent disease Sanger Sequencing of CLCN5 gene
Dentatorubral-pallidoluysian Atrophy CAG Expansion detection in the ATN1 gene (DRPLA)
Dentinogenesis imperfecta, Shields type II, III, Dentin dysplasia, type II, Failure of tooth eruption, primary, Tooth agenesis, selective, 4, AD, Tooth agenesis, selective, 1, with or without orofacial cleft, Witkop syndrome Next Generation Sequencing of 4 gene panel: DSPP, MSX1, PTH1R, WNT10A.
Diabetes insipidus, nephrogenic autosomal recessive Sanger Sequencing of the AQP2 gene
Diabetes Insipidus, Nephrogenic, X-Linked Sanger Sequencing of the AVPR2 gene
Diabetes insipidus, neurohypophyseal Sanger Sequencing of the AVP gene
Diabetes MODY type 1 Sanger Sequencing of the HNF4A gene
Diabetes MODY type 2 Sanger sequencing of the GCK gene
Diabetes MODY type 3 Sanger Sequencing of the HNF1A gene
Diabetes MODY type 3 Detection of large deletions and/or duplications in the HNF1A gene by MLPA
Diabetes, permanent neonatal Sanger Sequencing of the KCNJ11 gene
Diamond-Blackfan anemia 1 Sanger Sequencing of RPS19 gene
Diamond-Blackfan anemia 6 Sanger Sequencing of RPL5 gene
Diamond-Blackfan anemia 9 Sanger Sequencing of RPS10 gene
Diaphanospondylodysostosis Sequencing of the BMPER gene
Diaphragmatic hernia 3 Sanger Sequencing of the gene ZFPM2
Diarrhea 4, malabsorptive, congenital Sanger sequencing of the NEUROG3 gene
Digital arthropathy-brachydactyly, familial Sanger Sequencing of the TRPV4 gene
Disorganized development of skeletal components group: Multiple cartilaginous exostoses 1, 2. Fibrous dysplasia, polyostotic form, Progressive osseous heteroplasia, Osteoglophonic dysplasia, Cherubism, Gnathodiaphyseal dyspla Next Generation Sequencing of 6 gene panel: ANO5, EXT1, EXT2, FGFR1, GNAS, SH3BP2
DNA Extraction Kits Extraction from paraffin-embedded samples
DNA Extraction Kits DNA Extration
Dravet syndrome Sanger Sequencing of the SCN1A gene
Dravet syndrome Detection of large deletions and/or duplications in SCN1A gene by MLPA
Drug metabolism CYP2D6 genotyping related to drug metabolism
Duane-radial ray syndrome Detection of deletions and/or duplications in SALL4 gene by MLPA
Duchenne-Becker Muscular Dystrophy Detection of large deletions and/or duplications in the DMD gene by MLPA
Duchenne-Becker Muscular Dystrophy NGS and Sanger sequencing of DMD gene
Dyggve-Melchior-Clausen disease Sanger Sequencing of the DYM gene
Dyskeratosis congenita NGS of 9 gene panel: ACD, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2
Dyslipidemia associated with storage diseases NGS of 4 gene panel: NPC1, NPC2, LIPA, GBA
Dysostoses with predominant craniofacial involvement: Frontonasal dysplasia, 1, 2. Miller syndrome (postaxial acrofacial dysostosis). Craniofrontonasal or Treacher Collins syndrome 1, 3, Weyer acrofacial (acrodental) dysostos Next Generation Sequencing of 8 gene panel: ALX3, ALX4, DHODH, EFNB1, EVC, EVC2, POLR1C, TCOF1.
Dysostoses with predominant vertebral with and without costal involvement: Diaphanospondylodysostosis, Klippel-Feil syndrome 1, autosomal dominant, Spondylocostal dysostosis types 1, 2, 3, 4. Spondylothoracic dysostosis. Next Generation Sequencing of 6 gene panel: BMPER, DLL3, GDF6, HES7, LFNG, MESP2.
Dysplasias with multiple joint dislocations: Desbuquois dysplasia, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Spondyloepiphyseal dysplasia with congenital joint dislocations (Larsensyndrome), Atelosteogenesis Next Generation Sequencing of 5 gene panel: B3GAT3, CANT1, CHST3, FLNB, PRG4.
Dyssegmental dysplasia, Silverman-Handmaker type NGS and Sanger Sequencing of the HSPG2 gene
Dystonia 19 Sanger Sequencing of the SLC2A1 gene.
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia Sanger Sequencing of the GCH1 gene
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia Detection of large deletions and/or duplications in the GCH1 gene by MLPA
Dystonia-12 Sanger sequencing of the ATP1A3 gene
EBD inversa Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene
EBD, Bart type Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene
Ectopia lentis, familial NGS and Sanger FBN1 gene
Ectrodactyly, Ectodermal Dysplasia and Cleft lip/Palate Syndrome Sanger Sequencing of the TP63 gene
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate Syndrome Sanger Sequencing of exons 5, 6,7,8,13 and 14 of the TP63 gene
Ehlers-Danlos syndrome type 1 Next Generation Sequencing and Sanger Sequencing of the COL5A2 gene
Ehlers-Danlos syndrome type 1 NGS and Sanger Sequencing of the COL5A1 gene
Ehlers-Danlos syndrome type 1 NGS and Sanger Sequencing of the COL1A1 gene
Ehlers-Danlos syndrome type 1 NGS of two genes: COL5A1, COL5A2.
Ehlers-Danlos syndrome type 1 Detection of deletions and/or duplications in COL5A1 gene by MLPA
Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficie Next Generation Sequencing and Sanger Sequencing of the TNXB gene
Ehlers-Danlos syndrome, cardiac valvular form NGS and Sanger Sequencing of the COL1A2 gene
Ehlers-Danlos syndrome, occipital horn type, Menkes syndrome and . Cardiac valvular dysplasia, X-linked, Next Generation Sequencing of 2 gene panel: ATP7A, FLNA
Ehlers-Danlos syndrome, type I, II, III, IV, VIIA, VIIB, autosomal dominant, E-D hypermobility type, AD. Next Generation Sequencing of 6 gene panel: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB.
Ehlers-Danlos syndrome, type II NGS and Sanger Sequencing of the COL5A1 gene
Ehlers-Danlos Syndrome, type III Next Generation Sequencing and Sanger Sequencing of the TNXB gene
Ehlers-Danlos Syndrome, type III Detection of deletions and/or duplications in TNXB gene
Ehlers-Danlos Syndrome, type III NGS and Sanger Sequencing of the COL3A1 gene
Ehlers-Danlos syndrome, type IV (vascular) Detection of large deletions and/or duplications in the COL3A1 gene by MLPA
Ehlers-Danlos syndrome, type IV (vascular) NGS and Sanger Sequencing of the COL3A1 gene
Ehlers-Danlos syndrome, type VI Sanger Sequencing of the PLOD1 gene
Ehlers-Danlos syndrome, type VI Detection of deletions and/or duplications in PLOD1 gene by MLPA
Ehlers-Danlos syndrome, type VIIA NGS and Sanger Sequencing of the COL1A1 gene
Ehlers-Danlos syndrome, Type VIIB NGS and Sanger Sequencing of the COL1A2 gene
Ehlers-Danlos syndrome, Type VIIC Sanger Sequencing of the ADAMTS2 gene
Ehlers-Danlos syndrome, types VI, VIB, VIIC, E-D musculocontractural type, E-D cardiac valvular form, E-D syndrome-like, E-D, due to tenascin X deficiency, autosomal recessive, Homocystinuria & Nevo syndrome. Next Generation Sequencing of 8 gene panel: ADAMTS2, CHST14, CBS, COL1A2, PLOD1, SLC39A13, TNXB, ZNF469.
Eiken syndrome Sanger Sequencing of the PTH1R gene
Ellis-van Creveld syndrome Sanger sequencing of the EVC gene
Ellis-van Creveld syndrome Sanger Sequencing of the EVC2 gene
Emery-Dreifuss muscular dystrophy Next Generation Sequencing of 5 gene panel: EMD, FHL1, LMNA, SYNE1, SYNE2.
Emery-Dreifuss muscular dystrophy 1, X-linked Sanger Sequencing of the EMD gene
Emery-Dreifuss muscular dystrophy 4, autosomal dominant NGS and Sanger Sequencing of the SYNE1 gene
Emery-Dreifuss muscular dystrophy 5, autosomal dominant NGS and Sanger Sequencing of the SYNE2 gene
Endocrine tumors (MEN2/ CMT, MEN1, Von Hippel Lindau) NGS of 3 gene panel:RET, MEN1, VHL
Endocrine tumors ( Pituitary adenoma, MEN2/ CMT, MEN1, Von Hippel Lindau, Carney complex) NGS of 7 gene panel: AIP, CDKN1B, RET, MEN1, VHL, PRKAR1A, DICER1
Endplate acetylcholinesterase deficiency Sanger sequencing of the COLQ gene
Epidermolysis Bullosa Dystrophica AD Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene
Epidermolysis bullosa dystrophica, AR Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene
Epidermolysis bullosa dystrophica, pruriginosa, pretibial and Bart type, AD & Epidermolysis bullosa, junctional, non-Herlitz type, inversa type AR, Transient bullous of the newborn, AD and AR. Toenail dystrophy. Next Generation Sequencing of 2 gene panel: COL17A1, COL7A1.
Epidermolysis bullosa pruriginosa Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene
Epidermolysis Bullosa Simplex with pyloric atresia NGS and Sanger Sequencing of the PLEC gene
Epidermolysis bullosa, junctional, non-Herlitz type Sequencing of the COL17A1 gene
Epidermolysis bullosa, lethal acantholytic NGS and Sanger sequencing of DSP gene
Epidermolysis bullosa, pretibial Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene
Epidermolytic hyperkeratosis Sanger sequenicng of the KRT10 and KRT1 genes
Epidermolytic palmoplantar hyperkeratosis Sanger sequencing of the KRT9 gene
Epidermolytic palmoplantar hyperkeratosis Sanger sequencing of the KRT1
Epilepsy Benign Neonatal Detection of large deletions and/or duplications in the KCNQ2 gene by MLPA
Epilepsy Lateral Temporal Lobe, Autosomal Dominant Sanger Sequencing of the LGI1 gene
Epilepsy associated to intellectual disabilities NGS of 29 gene panel: ABAT, CASK, CDKL5, DYNC1H1, FOXG1, GABRA5, GABRG3, GRIN1, GRIN2A, GRIN2B, MBD5, MECP2, MED17, MEF2C, MTOR, NEU1, PIGN, PIGT, PURA, RBFOX1, RBFOX3, SLC4A10, SNIP1, SRGAP2, SRPX2, ST3GAL5, SYN1, SYNGAP1, UBE3A.
Epilepsy associated to Rett, Angelman syndromes NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRG3, MECP2, RBFOX1, RBFOX3, UBE3A.
Epilepsy related with Ceroid lipofuscinosis, neuronal NGS of 12 gene panel: ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, MFSD8, PPT1, TPP1.
Epilepsy related with metabolic disorders NGS of 13 gene panel: ADSL, ARG1, ALDH5A1, BCKDHB, BTD, D2HGDH, FARS2, GAD2, GLB1, GLUL, PGK1, PSAT1, SUOX.
Epilepsy, Benign Familial Neonatal, 1 Sanger Sequencing of the KCNQ2 gene
Epilepsy, Benign Familial Neonatal, 2 Sanger Sequencing of the KCNQ3 gene
Epilepsy, focal, with speech disorder and with or without mental retardation Sanger Sequencing of the GRIN2A gene
Epilepsy, generalized, with febrile seizures plus, type 3 Sanger Sequencing of the SCN1A gene
Epilepsy, generalized, with febrile seizures plus, type 3 Sanger Sequencing of the GABRG2 gene
Epilepsy, generalized, with febrile seizures plus, type 7 Sanger Sequencing of the SCN9A gene
Epilepsy, progressive myoclonic 2A (Lafora) Sanger Sequencing of the EPM2A gene
Epilepsy, progressive myoclonic 2B (Lafora) Sanger Sequencing of the NHLRC1 gene
Epilepsy, progressive myoclonic, 10 Sanger sequencing of the PRDM8 gene
Epilepsy, frontal or temporal lobes NGS of 10 gene panel: CHRNA2, CHRNA4, CHRNB2, DEPDC5, GABBR1, GABBR2, KCNT1, LGI1, TNK2, SLC12A2
Epilepsy, generalized, with febrile seizures plus and Febrile seizures, familial, NGS of 6 gene panel: GABRD, GABRG2, HCN2, SCN1A, SCN1B, SCN9A
Epilepsy, idiopathic generalized and Epilepsy, juvenile myoclonic, NGS of 10 gene panel: CACNB4, CLCN2, CHRNA7, CNTN2, GABRA1, GABRD, GABRB3, GABRG2, SLC2A1, TBC1D24,
Epilepsy, progressive myoclonic, Lafora and Unverricht and Lundborg types NGS of 12 gene panel: ASAH1, CERS1, CSTB, EPM2A, EPM2AIP1, GOSR2, KCNC1, KCTD7, NHLRC1, PRICKLE1, PRICKLE2, SCARB2.
Epilepsy: genes associated to diagnosis and treatment NGS of 200 gene panel: ABAT, ADAM22, ADSL, ALDH5A1, ALDH7A1, ALG13, AMT, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARX, ASAH1, ATP13A2, ATP7A, BCKDHB, BRAT1, BTD, CACNA1A, CACNA2D2, CACNB4, CASK, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTN2, CNTNAP2, ,CSNK1G1 , CSTB, CTSD, CTSF, D2HGDH, DEPDC5, DNAJC5, DNM1, DOCK7, DYNC1H1, EEF1A2, EPM2A, EPM2AIP1, ERMARD, FARS2, FLNA, FOLR1, FOXG1, FUCA1, GABBR1, GABBR2, GABRA1, GABRA5, GABRA6, GABRB1, GABRB2, GABRB3, GABRD, GABRE, GABRG1, GABRG2, GABRG3, GABRP, GABRQ, GABRR1, GABRR2, GABRR3, GAD2, GAMT, GATM, GCSH, GLB1, GLDC, GLRA1, GLRB, GLUL, GNAO1, GOSR2, GPHN, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HCN2, HCN3, HCN4, HNRNPU, KCNA2, KCNAB1, KCNB1, KCNC1, KCNH2, KCNH5, KCNJ1, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD7, KIF2A, KIF5C, KPNA7, LGI1, MAGI2, MAPK10, MBD5, MECP2, MED17, MEF2C, MFSD8, MOCS1, MOCS2, MTOR, MYO5A, NECAP1, NEDD4L, NEU1, NHLRC1, NRXN1, PCDH19, PGK1, PIGA, PIGN, PIGQ, PIGT, PLCB1, PMM2, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRICKLE2, PRRT2, PSAT1, PURA, RAB27A, RAB3GAP1, RAB3GAP2, RBFOX1, RBFOX3, RFT1, ROGDI, SCARB2, SCN1A, SCN1B, SCN2A, SCN4A, SCN5A, SCN8A, SCN9A, SERPINI1, SLC12A1, SLC12A2, SLC12A7, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SLC4A10, SLC6A5, SLC6A8, SNIP1, SPTAN1, SRGAP2, SRPX2, ST3GAL3, ST3GAL5, STAMBP, STXBP1, SUOX, SYN1, SYNGAP1, SZT2, TBC1D24, TCF4, TNK2, TPP1, TREX1, TUBB, TUBB2A, TUBB3, TUBG1, UBE3A, VDAC1, WWOX, EPHX1, CYP2C19, CYP2C9, CYP2D6
Epilepsy: genes in investigation NGS of 12 gene panel: ADAM22, GABRB1, GABRB2, GABRA6, GABRE, GABRG1, GABRP, GABRQ, GABRR1, GABRR2, GABRR3, VDAC1
Epilepsy: genes related to treatment NGS of 13 gene panel: ALDH7A1, CYP2C19, CYP2C9, CYP2D6, EPHX1, KCNQ2, MTOR, PNPO, POLG, PRRT2, SCN1A, SLC2A1, SLC12A2
Epileptic encephalopathy, early infantile, 1 Sanger Sequencing of the ARX gene
Epileptic encephalopathy, early infantile, 16 Sanger sequencing of the TBC1D24 gene
Epileptic encephalopathy, early infantile, 9; Juberg-Hellman syndrome Sanger Sequencing of the PCDH19 gene
Epileptic encephalopathy, early infantile NGS of 49 gene panel: ALDH7A1, ARHGEF9, ARHGEF15, ARX, BRAT1, CACNA2D2, CDKL5, CHD2, CLCN4, CSNK1G1, DNM1, DOCK7, EEF1A2, GABRA1, GNAO1, GRIN2B, HCN1, HNRNPU, KCNA2, KCNB1, KCNH5, KCNQ2, KCNT1, KPNA7, MAPK10, MECP2, NECAP1, NEDD4L, PCDH19, PIGA, PIGQ, PLCB1, PNKP, PNPO, SCN1A, SCN2A, SCN8A, SCN9A, SERPINI1, SLC13A5, SLC2A1, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SZT2, TBC1D24, WWOX
Epiphyseal dysplasia, multiple, 2 Sequencing of the COL9A2 gene
Epiphyseal dysplasia, multiple, 3 NGS and Sanger Sequencing of the COL9A3 gene
Epiphyseal dysplasia, multiple, 6 Sequencing of the COL9A1 gene
Epiphyseal dysplasia, multiple, with myopia and deafness NGS and Sanger Sequencing of the COL2A1 gene
Epiphyseal dysplasia, multiple, with myopia and deafness Large deletions and duplications in the COL2A1 gene by MLPA
Episodic ataxia, type 2 NGS and Sanger Sequencing in the CACNA1A gene
Episodic ataxia, type 2 Detection of deletions and/or duplications in CACNA1A gene by MLPA
Episodic ataxias, autosomal dominant, 1, 2, 5, 6. Next Generation Sequencing of 4 gene panel: CACNA1A, CACNB4, KCNA1, SLC1A3
Episodic pain syndrome, familial, 2 Sanger sequencing of the SCN10A gene
Epstein syndrome Next Generation Sequencing and Sanger Sequencing of the MYH9 gene
Exostoses, hereditary multiple Sanger Sequencing of the EXT1 gene
Exostoses, hereditary multiple Detection of large deletions and/or duplications in EXT1 and EXT2 genes by MLPA
Exostoses, hereditary multiple Detection of large deletions and/or duplications in EXT1 gene by MLPA
Exostoses, hereditary multiple Detection of large deletions and/or duplications in EXT2 gene by MLPA
Exostoses, hereditary multiple Large deletion and duplication detection in the EXT1 and TRSP1 genes by MLPA
Exostoses, multiple, type 2 Sanger Sequencing of the EXT2 gene
Exudative vitreoretinopathy 4 Sanger Sequencing of the LRP5 gene
Facioescapulohumeral Dystrophy, type I Deletion detection of DUX4 (D4Z4) region by Southern Blot
Facioescapulohumeral Dystrophy, type I Hybrid fragment detection in the DUX4 (D4Z4) region
Facioscapulohumeral muscular dystrophy 2, digenic Sanger Sequencing of the gene SMCHD1
Factor V (Leiden) deficiency Detection of mutation R506Q in the F5 (Factor V) gene
Factor XII, Deficiency of Detection of mutation c.46C>T of the F12 gene
Factor XII, Deficiency of Sanger sequencing of the exon 9 of FXII gene.
Familial Aggregation Study Next Generation and Sanger sequencing to avoid pseudogenes of a panel of 21 genes: APC, ATM, BRCA1, BRCA2, BRIP1, CDH1,CHEK2, ERCC4, HOXB13, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS1, PTEN, RAD51C, RAD51D, STK11, TP53, XRCC2
Familial Amyloidosis Sanger Sequencing of the TTR gene
Familial Arrhythmia NGS of 62 gene panel: ABCC9, AKAP9, ANK2, BAG3, CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CASQ2, CAV3, CRYAB, DES, DPP6, DSC2, DSG2, DSP, FLNC, GJA1, GJA5, GPD1L, HCN1, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ11, KCNJ12, KCNJ2, KCNJ3, KCNJ5, KCNJ8, KCNQ1, KCNQ2, LDB3, MYOT, NPPA, PKP2, PKP4, PNN, RANGRF, RPSA, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN10A, SCNN1B, SCNN1G,SNTA1, TGFB3, TMEM43, TRPM4, TTN
Familial Arrhythmia NGS of 62 gene panel: ABCC9, AKAP9, ANK2, BAG3, CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CASQ2, CAV3, CRYAB, DES, DPP6, DSC2, DSG2, DSP, FLNC, GJA1, GJA5, GPD1L, HCN1, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2,KCNJ11,KCNJ12, KCNJ2, KCNJ3, KCNJ5, KCNJ8, KCNQ1, KCNQ2, LDB3, MYOT, NPPA, PKP2, PKP4, PNN, RANGRF, RPSA, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN10A, SCNN1B, SCNN1G, SNTA1, TGFB3, TMEM43, TRPM4, TTN & Detection of large deletions and/or duplications in the KCNE1, KCNQ1, KCNH2, KCNE2, SCN5A by MLPA.
Familial Cardiomyopathy Sanger Sequencing of the PRKAG2 gene
Familial Cardiomyopathy Next Generation Sequencing and Sanger Sequencing of the ACTN2 gene
Familial Cardiomyopathy Next Generation Sequencing and Sanger Sequencing of the MYBPC3 gene
Familial Cardiomyopathy Next Generation Sequencing and Sanger Sequencing of the MYH7 gene
Familial Cardiomyopathy Next Generation Sequencing and Sanger Sequencing of the VCL gene
Familial Cardiomyopathy Detection of large delections or duplications in gene the GLA, MYBPC3 and TNNT2 genes by MLPA
Familial Hemiplegic Migraine 1 NGS and Sanger Sequencing in the CACNA1A gene
Familial Hemiplegic Migraine 1 Detection of deletions and/or duplications in CACNA1A gene by MLPA
Familial Hemiplegic Migraine 2 Sanger Sequencing of the ATP1A2 gene
Familial Hypokalaemic Periodic Paralysis Detection of mutations R528H, R528G, R1239H and R1239G on the CACNA1S gene
Familial Hypokalaemic Periodic Paralysis Mutation screening in exons 12 and 18 of SCN4A gene and exon 21 of CACNA1S gene
Familial Hypokalaemic Periodic Paralysis NGS and Sanger Sequencing of the CACNA1S gene
Familial Hypokalaemic Periodic Paralysis NGS of 2 gene panel: CACNA1S, SCN4A
Familial Hypokalaemic Periodic Paralysis Sanger sequencing of the SCN4A gene
Familial Paraganglioma 1 Sanger Sequencing of the SDHD gene
Familial Paraganglioma 4 Sanger sequencing of SDHB gene
Familial Spastic Paraplegia 7 Detection of deletions and/or duplications in SPG7 gene by MLPA
Familial Spastic Paraplegia 7 Sanger Sequencing of the SPG7 gene
Familial Adenomatous Polyposis NGS of 7 gene panel: APC, AXIN2, MUTYH, NTHL1, SCG5, POLD1, POLE
Familial Aggregation Study NGS of 40 gene panel: APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, GREM1, KIT, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PDGFRA, PMS1, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SCG5, SMAD4, SMARCA4, STK11, TP53, SC1, TSC2, VHL .
Familial Hypercholesterolemia and hyperlipidemia, mixed and detection of Statin myopathy NGS of 16 gene panel: ABCG5, ABCG8, APOB, APOE, CH25H, CYP7A1, INSIG2, LDLR, LDLRAP1, LIPA, NPC1, NPC2, OSBPL5, PCSK9, STAP1, SLCO1B1
Familiar Deafness NGS of 79 gene panel: ACTG1, BSND, CABP2, CCDC50, CDH23, CEACAM16, CIB2, CISD2, CLDN14, CLRN1, COCH,COL11A2, CRYM, DFNA5, DFNB59, DIAPH1, ESRRB, EYA4, FOXI1, GATA3,GIPC3, GJB2, GJB3, GJB6, ADGRV1, GPSM2, GRHL2, GRXCR1, HGF, ILDR1, KCNE1, KCNJ10, KCNQ1, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MIR96, MITF, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOF, OTOG, OTOGL, PCDH15, PDZD7,PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SLC17A8, SLC26A4, SLC26A5, DIABLO, SMPX,TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP,TSPEAR, USH1C, USH1G, USH2A, WFS1, DFNB31
Fanconi Anemia Detection of large deletions and/or duplications in the FANCA gene by MLPA
Fanconi Anemia Sanger Sequencing of the FANCA gene
Fanconi Anemia NGS of 16 gene panel: BRCA2, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4.
Fanconi anemia, complementation group J Sanger sequencing of the BRIP1 gene
Fanconi anemia NGS of 17 gene panel: BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4, UBE2T
Febrile seizures, familial, 3A Sanger Sequencing of the SCN1A gene
Febrile seizures, familial, 4 NGS and Sanger Sequencing of the ADGRV1 gene
Fechtner syndrome Next Generation Sequencing and Sanger Sequencing of the MYH9 gene
Fetal akinesia deformation sequence [FADS] Sanger Sequencing of the RAPSN gene
Fetal akinesia deformation sequence, Next Generation Sequencing of 2 gene panel: DOK7, RAPSN
FG syndrome 2 Next Generation Sequencing and Sanger Sequencing of the FLNA gene
FG syndrome 4 Detection of deletions and/or duplications in CASK gene by MLPA
Fibrochondrogenesis Next Generation Sequencing and Sanger Sequencing of the COL11A1 gene
Fibrochondrogenesis 2 Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene
Fibrodysplasia Ossificans Progressiva Sanger Sequencing of the ACVR1 gene
Fibrodysplasia Ossificans Progressiva Detection of mutation c.617G>A (Arg206His) in the ACVR1 gene
Filamin group and related disorders: Frontometaphyseal dysplasia, Atelosteogenesis 1, 3, FG 2, Melnick-Needles, Larsen, Frank-ter Haar syndromes , Otopalatodigital types I, II, Terminal osseous dysplasia with pigmentary d Next Generation Sequencing of 3 gene panel: FLNA, FLNB, SH3PXD2B.
Follicle-stimulating hormone deficiency, isolated Sanger Sequencing of the FSHB gene
Fragile X Syndrome (FRAXA) Detection of CGG alleles (normal and expanded) in the FMR1 gene, by PCR and TP-PCR.
Fraser syndrome Sanger sequencing of exons 29, 31, 39, 40, 41, 49,51, 53, 57, 58, 60 of the FRAS1 gene
Fraser syndrome Study of exons 2, 31, 40 and 49 of the FRAS1 gene by QMPSF
Friedreich Ataxia GAA Expansion detection in the FXN gene
Friedreich Ataxia Sanger Sequencing of the FXN gene
Friedreich ataxia, Abetalipoproteinemia & Ataxia with isolated vitamin Next Generation Sequencing of 3 gene panel: FXN, MTTP, TTPA.
Frontometaphyseal dysplasia Next Generation Sequencing of 2 gene panel: ALX3 and ALX4
Frontometaphyseal dysplasia Next Generation Sequencing of 2 gene panel: ALX3 and ALX4 and detection of large deletions and/or duplications in the ALX1, ALX3 & ALX4 genes by MLPA
Frontometaphyseal dysplasia Next Generation Sequencing and Sanger Sequencing of the FLNA gene
Frontonasal dysplasia 1, 2 & Craniofrontonasal dysplasia AD, AR, LX., Frontometaphyseal dysplasia, Craniometaphyseal dysplasia AD, Craniodiaphyseal dysplasia, autosomal dominant. Next Generation Sequencing of 6 gene panel: ALX3, ALX4, ANKH, EFNB1, FLNA, SOST.
Frontotemporal Dementia Sanger Sequencing of the PSEN1 gene
Frontotemporal Dementia Detection of large deletions and/or duplications in the MAPT and GRN genes by MLPA
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis Hexanucleotide expansion detection in a noncoding region of the C9ORF72 gene
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis NGS of 3 genes: FUS, MAPT, TARDBP
Frontotemporal dementia with lobar degeneration Sanger Sequencing of the GRN gene
Frontotemporal dementia with parkinsonism Sanger Sequencing of exons 2 and 11 to 15 of the MAPT gene
Frontotemporal dementia with parkinsonism Sanger Sequencing of the MAPT gene
Fructose Intolerance Detection of mutations A149P, A174D, N334K in the ALDOB gene
Fructose Intolerance Sanger Sequencing of the ALDOB gene
Gastric Cancer, diffuse Sanger Sequencing of the CDH1 gene
Gastric Cancer, diffuse Detection of large deletions and/or duplications in the CDH1 gene by MLPA
Gastric Cancer, diffuse NGS of 11 gene panel: APC,BRCA1, BRCA2,CDH1,CHEK2,MLH1, MSH2, MSH6, MUTYH, PMS1, TP53
Gastrointestinal stromal tumor Sanger sequencing of the SDHC gene
Gastrointestinal stromal tumor, familial (GIST) NGS of 2 gene panel: KIT, PDGFRA and Sanger sequencing of the SDHB, SDHC genes
Gaucher disease Sanger Sequencing of the GBA gene
Gaucher disease Detection of mutations p.Asn409Ser, p.Val433Leu, p.Arg535His, pLeu29AlafsX18, p.Leu444Pro, c.IVS2+1G>A in the GBA gene
Geleophysic dysplasia 1 Sanger Sequencing of the ADAMTS2 gene
Geleophysic dysplasia 1 Sanger Sequencing of the ADAMTSL2 gene
Geleophysic dysplasia 2 NGS and Sanger FBN1 gene
Genetic affiliation Post mortem DNA preservation
Genetic affiliation Preservation of one's own DNA
Genetic affiliation Paternity test
Genetic affiliation Sibling or kinship test
Genetic affiliation Genetic identification test: further study
Genetic affiliation Biological Study of Kinship. Test for confidence.
Genetic Linkage Analysis Haplotypes analysis (includes three family members and four genetic markers)
Genetic Linkage Analysis Additional family member Haplotypes analysis.
Genetic Linkage Analysis Two additional genetic markers
Genetic Linkage Analysis Discrimination Study by haplotype analysis
Genetic inflammatory/rheumatoid-like osteoarthropathies: Multifocal osteomyelitis with dyserythropoietic anemia (Majeed syndrome); Sterile multifocal osteomyelitis, periostitis; Progressive pseudorheumatoid dysplasia; Osteo Next Generation Sequencing of 7 gene panel: ACAN, COL2A1, HPGD, IL1RN, LPIN2, TRPV4, WISP3.
Gilbert syndrome Detection of the A(TA)7TAA allele in the UGT1A1 gene promotor
Gitelman Syndrome Sanger Sequencing of the SLC12A3 gene
Glaucoma 1A, primary open angle Sanger Sequencing of the MYOC gene
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset Detection of large deletions / duplications in the CYP1B1 gene by MLPA
Glioma, susceptibility to, somatic Sanger sequencing of the IDH1 gene
Glomerulosclerosis, focal segmental, 1 Sanger secuencing of the ACTN4 gene
Glomerulosclerosis, focal segmental, 2 Sanger sequencing of the TRPC6 gene
Glomuvenous malformations NGS and Sanger sequencing of the GLMN gene
GLUT1 deficiency syndrome 2 or Dystonia 18. Sanger sequencing and detection of deletions and/or duplications in SLC2A1 gene by MLPA
GLUT1 deficiency syndrome 2 or Dystonia 18. Sanger Sequencing of the SLC2A1 gene.
GLUT1 deficiency syndrome 2 or Dystonia 18. Detection of large deletions and/or duplications in the SLC2A1 gene by MLPA
GLUT1 deficiency syndrome type I. Sanger sequencing and detection of deletions and/or duplications in SLC2A1 gene by MLPA
GLUT1 deficiency syndrome type I. Sanger Sequencing of the SLC2A1 gene.
GLUT1 deficiency syndrome type I. Detection of large deletions and/or duplications in the SLC2A1 gene by MLPA
Glutaric Aciduria type 1 Sanger Sequencing of the GCDH gene
Glycine encephalopathy Sanger Sequencing of the GLDC gene
Glycine encephalopathy Sanger Sequencing of the AMT gene
Glycine encephalopathy Detection of large deletions and/or duplications in the GLDC gene by MLPA
Glycine encephalopathy NGS of 3 gene panel: AMT, GCSH, GLDC
Glycogen storage disease III NGS and Sanger Sequencing of the AGL gene
Glycogen storage disease of heart, lethal congenital Sequencing of the PRKAG2 gene
Glycogen Storage Disease Type 1 B Sanger Sequencing of the SLC37A4 gene
Glycogen Storage Disease Type Ia Sanger Seq.of exons 2 and 3 of the G6PC gene
Glycogen Storage Disease Type Ia Sanger Sequencing of the G6PC gene
Glycogen Storage Disease Type II (Pompe Disease) Next Generation Sequencing and Sanger Sequencing of the GAA gene
Glycogen storage disease type IV Sanger Sequencing of the GBE1 gene
Glycogen Storage Disease Type V Detection of the R50X mutation in the PYGM gene
Glycogen Storage Disease Type V Sanger sequencing of exons 1, 5, 13, 14, 17, 18, 19 and 20 of the PYGM gene
Glycogen Storage Disease Type V Sanger Sequencing of the PYGM gene
Glycogen Storage Disease Type V Detection of mutation R50X,G205S and W798R in the PYGM gene
Glycogen storage disease X Sanger Sequencing of the PGAM2 gene
Glycogen storage disease NGS of 4 gene panel: G6PC, GYS1, GYS2, SLC37A4
Glycogen storage disease NGS of 24 gene panel: AGL, ALDOA, ENO3, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2, SLC37A4.
Glycoproteinosis, fucosidosis, Mannosidosis, Gklycogenosis type 2 NGS of 5 gene panel: FUCA1, GAA, LAMP2, MAN2B1, MANBA
Gnathodiaphyseal dysplasia NGS and Sanger Sequencing of the ANO5 gene
Gonadal Dysgenesis (XY Female) Determination of the presence or absence of the SRY gene by PCR
Gonadal Dysgenesis (XY Female) Sanger Sequencing of the SRY gene
Gordon Syndrome Sanger Sequencing of the WNK4 gene
Gorlin, syndrome Sanger Sequencing of the PTCH1 gene
Gorlin, syndrome Detection of large deletions and/or duplications in the PTCH1 gene by MLPA
Gracile Syndrome Sanger Sequencing of the BCS1L gene
Greig cephalopolysyndactyly syndrome Sanger Sequencing of the GLI3 gene
Griscelli syndrome NGS of 3 gene panel: MLPH, MYO5A, RAB27A
Growth hormone deficiency, isolated, type IA Detection of deletions and/or duplications in GH1 gene by MLPA.
Growth hormone deficiency, isolated, type IA Sanger sequencing of GH1 gene
Growth hormone deficiency, isolated, type IB Detection of deletions and/or duplications in GH1 gene by MLPA.
Growth hormone deficiency, isolated, type IB Sanger sequencing of GH1 gene
Growth hormone deficiency, isolated, type IB Growth hormone deficiency, isolated, type IB
Growth hormone deficiency, isolated, type II Detection of deletions and/or duplications in GH1 gene by MLPA.
Growth hormone deficiency, isolated, type II Sanger sequencing of GH1 gene
Hajdu-Cheney syndrome NGS and Sanger Sequencing of the NOTCH2 gene
Hamartoma tumor Polyposis syndromes NGS of 3 gene panel: SMAD4, PTEN, STK11.
Hamartoma tumor Polyposis syndromes NGS of 5 gene panel: BMPR1A, SMAD4, PTEN, STK11, DIS3L2.
Hearing loss secondary to kidney diseases Next Generation Sequencing of 3 gene panel: BSND, GATA3, MYH9
Heimler syndrome 1 Sanger sequencing of the PEX1 gene
Hematuria, benign familial Detection of large deletions and/or duplications in the COL4A3 gene by MLPA
Hematuria, benign familial Detection of large deletions and/or duplications in the COL4A4 gene by MLPA
Hemochromatosis Detection of mutations C282Y, H63D and S65C in the HFE gene
Hemochromatosis Sanger Sequencing of the HFE gene
Hemochromatosis type 3 Sanger Sequencing of the TFR2 gene
Hemolytic anemia due to G6PD deficiency Sanger Sequencing of the G6PD gene
Hemolytic anemia due to hexokinase deficiency Sanger sequencing of the HK1 gene
Hemolytic-Uremic Syndrome Sanger Sequencing of the CFH gene
Hemolytic-Uremic Syndrome Sanger Sequencing of the MCP gene
Hemolytic-Uremic Syndrome Sanger Sequencing of the CFI gene
Hemolytic-Uremic Syndrome Sanger Sequencing of the CFB gene
Hemolytic-Uremic Syndrome Sanger sequencing of the C3 gene
Hemophilia A Sanger Sequencing of the F8 gene
Hemophilia A Analysis for Intron 22 Inversion in F8 gene
Hemophilia A Analysis for Intron 1 Inversion in F8 gene
Hemophilia A Detection of large deletions and/or duplications in F8 gene
Hemophilia B Sanger Sequencing of the F9 gene
Hepatitis C virus infection, response to therapy of Genotyping of loci associated with response to therapy
Hereditary Breast and Ovarian Cancer Detection of large deletions and/or duplications in BRCA1 and BRCA2 genes
Hereditary Breast and Ovarian Cancer Sanger Sequencing of the RAD51C gene
Hereditary Breast and Ovarian Cancer Detection of large deletions and/or duplications in BRCA1 gene by MLPA
Hereditary Breast and Ovarian Cancer Detection of large deletions and/or duplications in BRCA2 gene by MLPA
Hereditary Breast and Ovarian Cancer Detection of the c.1100delC mutation in the CHEK2 gene
Hereditary Breast and Ovarian Cancer Detection of the c.319+1G>A mutation in the CHEK2 gene
Hereditary Breast and Ovarian Cancer MAMMA GeneProfile: NGS and screening of deletions / duplications in the BRCA1 and BRCA2 genes. Sanger sequencing confirmation of pathological variants and MLPA confirmation of genomic rearrangements previously detected.
Hereditary Breast and Ovarian Cancer NGS of 13 gene panel: BARD1, BRIP1, ATM, CDH1, CHEK2, ERCC4 , PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, XRCC2.
Hereditary Breast and Ovarian Cancer Next Generation and Sanger sequencing to avoid pseudogenes of a panel of 15 genes: BRCA1, BRCA2,BARD1, BRIP1, ATM, CDH1, CHEK2, ERCC4, PALB2,PTEN,RAD51C, RAD51D, STK11, TP53, XRCC2.
Hereditary Breast and Ovarian Cancer Next Generation and Sanger sequencing to avoid pseudogenes of a panel of 15 genes: : BRCA1,BRCA2,BARD1, BRIP1, ATM, CDH1,CHEK2, ERCC4 , PALB2,PTEN, RAD51C, RAD51D, STK11, TP53, XRCC2 y MLPA de BRCA1 y BRCA2.
Hereditary Breast and Ovarian Cancer Next Generation and Sanger sequencing to avoid pseudogenes of a panel of 6 genes: BRCA1, BRCA2,CDH1, PTEN, STK11, TP53 y MLPA de BRCA1 y BRCA2.
Hereditary Breast and Ovarian Cancer: NGS and informatics. Next-Generation Sequencing and raw data delivery through Genesys for BRCA1, BRCA2 genes
Hereditary Cancer Syndromes NGS of 73 gene panel:APC,ATM,AXIN2,BARD1,BLM,BRCA1,BRCA2,BRIP1,BUB1,CDH1,CDKN2A,CHEK2,DDB2,DKC1,ELANE,EPCAM,ERCC1,ERCC2,ERCC3,ERCC4,ERCC5,FANCA,FANCB,FANCC,FANCD2,FANCE,FANCF,FANCG,FANCI,FANCL,FANCM,FLCN,GFI1, GPC3,HOXB13,KIF1B,MAX,MEN1,MET,MLH1,MRE11A,MSH2,MSH6,MUTYH,NBN,NOP10,NSD1,NUDT1,OGG1,PALB2,PMS1,POLH,PTEN,RAD50,RAD51C,RAD51D,RET,SDHAF2,SDHB,SLX4,SMAD4,STK11,TERT,TMEM127,TP53,TSC1,TSC2,VHL,WAS,WT1,XPA,XPC,XRCC2.
Hereditary hyperekplexia NGS of 5 gene panel: ARHGEF9, GLRA1, GLRB, GPHN, SLC6A5
Hereditary leiomyomatosis and renal cell cancer syndrome Sanger sequencing of the FH gene
Hereditary motor and sensory neuropathy, type IIc Sanger Sequencing of the TRPV4 gene
Hereditary non poliposic Colon C ncer MSS NGS of 3 gene panel: NUDT1, OGG1, MUTYH
Hereditary pancreatitis Sanger Sequencing of exons 2 and 3 of the PRSS1 gene
Hereditary pancreatitis Sanger Sequencing of exon 3 of the SPINK1 gene
Hermansky-Pudlak syndrome NGS of 8 gene panel: AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS4, HPS5, HPS6
Heterotopia periventricular, X-linked dominant. Next Generation Sequencing and Sanger Sequencing of the FLNA gene
Heterotopia periventricular, X-linked dominant. Sanger sequencing of the FLNA gene
Heterotopia, periventricular, ED variant Next Generation Sequencing and Sanger Sequencing of the FLNA gene
Hidrotic Ectodermal Dysplasia Sanger Sequencing of the GJB6 gene
Holoprosencephaly Sanger Sequencing of the SHH gene
Holoprosencephaly NGS of 9 gene panel: CDON, EMX2, DKK1, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2
Holoprosencephaly; Schizencephaly NGS of 9 gene panel: CDON, EMX2, DKK1, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2
Holt Oram syndrome Sanger Seq.of exons 6, 7 and 8 of the TBX5 gene
Holt Oram syndrome Sanger sequencing of TBX5 gene
Holt Oram syndrome Detection of large deletions and/or duplications in TBX5 gene by MLPA
Homocystinuria, B6-responsive and nonresponsive types Sanger Sequencing of the CBS gene
Homocystinuria, Methylmalonic acidemia and homocysteinemia, Homocystinuria-megaloblastic anemia. NGS of 4 gene panel: CBS, HCFC1, MTHFR, MTR
Huntington disease Detection of the CAG expansion in the HTT gene
Hydranencephaly with abnormal genitalia Sanger Sequencing of the ARX gene
Hydrocephalus (H), nonsyndromic; H. due to aqueductal stenosis; H. with congenital idiopathic intestinal pseudoobstruction; Hydranencephaly with abnormal genitalia; H. with chondrodysplasia and microphthalmia; Megalencephaly-polymicrogyria-polydactyly-hy NGS of 8 gene panel: AKT3, ARX, CCDC88C, HCCS, HDAC6, L1CAM, MPDZ, PIK3R2.
Hydrocephalus due to aqueductal stenosis Sanger Sequencing of the L1CAM gene
Hydrocephalus due to aqueductal stenosis NGS of 8 gene panel: AKT3, ARX, CCDC88C, HCCS, HDAC6, L1CAM, MPDZ, PIK3R2.
Hydrocephalus due to aqueductal stenosis, Hirschsprung disease, Corpus callosum, partial agenesis of, Congenital cataracts, hearing loss, and neurodegeneration NGS of 8 gene panel: AKT3, ARX, CCDC88C, HCCS, HDAC6, L1CAM, MPDZ, PIK3R2.
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction Sanger Sequencing of the L1CAM gene
Hydrocephalus with Hirschsprung disease Sanger Sequencing of the L1CAM gene
Hydroxyglutaric aciduria NGS of 3 gene panel: D2HGDH, IDH2, SLC25A1
Hyper IgE Syndrome Large deletions and duplications detection in the DOCK8 gene by MLPA
Hyperalphalipoproteinemia NGS of 4 gene panel: APOC3, CETP, LIPC, SLCO1B1
Hypercholanemia, familial NGS and Sanger Sequencing of the TJP2 gene
Hypercholesterolemia, familial Sanger Sequencing of the LDLR gene
Hypercholesterolemia, familial Detection of mutations Arg3500Gln and Arg3531Cys in the APOB gene
Hypercholesterolemia, familial Sanger Sequencing of the LDLRAP1 gene
Hypercholesterolemia, familial Detection of deletions and/or duplications in LDLR gene by MLPA
Hypercholesterolemia, familial NGS of 8 gene panel: ABCG5, ABCG8, APOB, APOE, CYP7A1, LDLR, LDLRAP1, PCSK9.
Hypercholesterolemia, familial NGS and Sanger sequencing of the APOB gene
Hyperekplexia 3 Sanger sequencing of the SLC6A5 gene
Hyperferritinemia Cataract Syndrome Sanger Sequencing of the FTL gene (IRE region)
Hyper-IgD Syndrome; HIDS Sanger Sequencing of the MVK gene
Hyper-IgE, syndrome Sanger sequencing of the STAT3 gene
Hyperinsulinemic hypoglycemia, familial, 4 Sanger sequencing of the HADH gene
Hyperkalemic Periodic Paralysis Sanger sequencing of the SCN4A gene
Hypermobility and anterior cruciate ligament injury NGS and Sanger Sequencing of the COL12A1 gene
Hyperostosis Corticalis generalisata NGS of 2 genes: LRP5, SOST
Hyperostosis, endosteal Sanger Sequencing of the LRP5 gene
Hyperoxaluria, Acatalasemia, Mulibrey syndrome, defective mitochondrial peroxisomal fission. NGS of 5 gene panel: AGXT, CAT, DNM1L, SOD1, TRIM37,
Hyperprolinemia, type I Sanger Sequencing of the PRODH gene
Hyperprothrombinemia Detection of the 20210GaA mutation in the F2 gene
Hypertriglyceridemia NGS of 9 gene panel: APOA5, APOB, APOC2, GCKR, GPD1, GPIHBP1, LMF1, LPL, SLCO1B1
Hypertrophic Cardiomyopathy (HCM) with or without cardiac conduction NGS of 35 gene panel: ACTC1, ACTN2, AGL, ANK2, ANKRD1, CALR3, CAV3, CSRP3, FXN, GAA, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PDLIM3, PLEC, PLN, PRKAG2, SLC25A4, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL & detection of large delections or duplications in gene the GLA, MYBPC3 and TNNT2 genes by MLPA
Hypertrophic Cardiomyopathy (HCM) with or without cardiac conduction NGS of 35 gene panel: ACTC1, ACTN2, AGL, ANK2, ANKRD1, CALR3, CAV3, CSRP3, FXN, GAA, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PDLIM3 ,PLEC, PLN, PRKAG2, SLC25A4, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL.
Hypertrophic Cardiomyopathy, with arrhythmia and/or cardiac conduction Next Generation Sequencing of 5 gene panel: EMD, FHL1, LMNA, SYNE1, SYNE2.
Hypertrophic or dilated cardiomyopathy with restrictive phenotype NGS of 8 gene panel: ACTC1, DES, MYH7, MYPN, TNNI3, TNNT2, TNNC1, TTR
Hypoaldosteronism, congenital, due to CMO II deficiency Sanger secuencing of the CYP11B2 gene
Hypoalphalipoproteinemia. NGS of 5 gene panel: ABCA1, APOA1, GBA, LCAT, LPL
Hypobetalipoproteinemia NGS of 7 gene panel: ANGPTL3, APOB, APOC3, MTTP, NPC1L1, PCSK9, SAR1B.
Hypobetalipoproteinemia NGS and Sanger sequencing of the APOB gene
Hypocalciuric hypercalcemia, type I Sanger secuencing of the CASR gene
Hypocholesterolemia and Hypotriglyceridemia NGS of 7 gene panel: ANGPTL3, APOB, APOC3, MTTP, NPC1L1, PCSK9, SAR1B.
Hypochondroplasia Sanger Sequencing of exons 11 and 13 of the FGFR3 gene
Hypogonadotropic hypogonadism 1 with or without anosmia Sanger Sequencing of the ANOS1 gene
Hypogonadotropic hypogonadism 1 with or without anosmia Detection of deletions and/or duplications in ANOS1 gene by MLPA.
Hypogonadotropic hypogonadism 13 with or without anosmia Sanger sequencing of the KISS1 gene
Hypogonadotropic hypogonadism 2 with or without anosmia Sanger sequencing of the FGFR1 gene
Hypogonadotropic hypogonadism 8 with or without anosmia Sanger sequencing of the KISS1R gene
Hypohidrotic Ectodermal Dysplasia Sanger Sequencing of the EDA gene
Hypohidrotic Ectodermal Dysplasia Sanger Sequencing of the EDAR gene
Hypohidrotic Ectodermal Dysplasia Sanger Sequencing of the EDARADD gene
Hypomagnesemia 3, renal Sanger Sequencing of the CLDN16 gene
Hypomagnesemia 5, renal, with ocular involvement Sanger Sequencing of the CLDN19 gene
Hypomyelination, global cerebral Sanger Sequencing of the SLC25A12 gene
Hypoparathyroidism, sensorineural deafness, and renal dysplasia Sanger Sequencing of the GATA3 gene
Hypophosphatemic Rickets AD Sanger sequencing of the FGF23 gene
Hypophosphatemic rickets, autosomal recessive, 2 NGS and Sanger Sequencing of the ENPP1 gene
Hypophosphatemic rickets (HR), XLD, HR with hypercalciuria, AD, HR, types 1, 2. HR Vitamin D-dependent rickets, type I, AR, Hypophosphatasia, Odontohypophosphatasia AD. Next Generation Sequencing of 7 gene panel: ALPL, CYP27B1, DMP1, ENPP1, FGF23, PHEX, SLC34A3.
Hypoplastic left heart syndrome Sanger Sequencing of the GJA1 gene
Ichthyosis lamellar (Collodion baby) Sanger sequencing of TGM1 gene
Ichthyosis lamellar (Collodion baby) Sanger sequencing of the ALOX12B gene
Ichthyosis lamellar (Collodion baby) Sanger sequencing of the ALOXE3 gene
Ichthyosis lamellar (Collodion baby) Sanger sequencing of the NIPAL4 gene
Ichthyosis, harlequin Sanger Sequencing of the ABCA12 gene
Ichthyosis, neurological disorder, and skeletal dysplasia and Papillon Lefevre NGS of 4 gene panel: ABHD5, ALDH3A2, CTSC, ELOVL4.
ID with metabolic diseases: Cerebral creatine deficiency (D); Methylcrotonyl-CoA carboxylase 2 D; Glycerol kinase D; Mucopolysaccharidosis II; N-terminal acetyltransferase D; Ornithine transcarbamylase D; Pyruvate dehydrogenase E1-alpha D; Leigh syndrome NGS of 13 gene panel: ADSL, CYB5R3, GAMT, GATM, GK, IDS, MCCC2, NAA10, OTC, PDHA1, PGK1, SC5D, SLC6A8
ID with metabolic diseases: Congenital disorder of glycosylation Ip, IIA, Iq; Combined oxidative phosphorylation deficiency 7 (D); phenylketonuria; Cytochrome c oxidase D 1; Hyperornithinemia -hyperammonemia-homocitrullinemia ; GLUT1 D 1, 2; Urocanase D; NGS of 11 gene panel: ALG11, BCS1L, C12orf65, MGAT2, NDUFA1, PAH, SRD5A3, SCO2, SLC25A15, SLC2A1, UROC1
Idiopathic premature ovarian failure. Sanger Sequencing of the TGFBR3 gene
IGF1 Deficiency Sanger sequencing and MLPA of IGF-1 gene
Inactivation of the DNA-repair gene MGMT Methylation analysis in the MGMT gene
Inclusion body myopathy, spheroid body, myosin storage, lactic acidosis. Next Generation Sequencing of 6 gene panel: GNE, ISCU, MYH2, MYH7, MYOT, VCP
Incontinentia Pigmenti Detection of deletion in the IKBKG gene
Incontinentia Pigmenti Chromosome X inactivation analysis (nuclear family)
Incontinentia Pigmenti Sanger sequencing of the IKBKG gene
Increased bone density group (without modification of bone shape), Autosomal dominant: Osteopetrosis late-onset form type 2, Osteopetrosis, late-onset form type 1 (OPTA1). Osteopoikilosis, Osteopathia striata with cranial s Next Generation Sequencing of 4 gene panel: CLCN7, FAM123B, LEMD3, LRP5.
Increased bone density group (without modification of bone shape), Autosomal recessive: Buschke-Ollendorff syndrome or osteopoikilosis with melorheostosis, Osteopetrosis, severe neonatal or infantile forms (OPTB1); OPTB2, OPT Next Generation Sequencing of 7 gene panel: CA2, CLCN7, OSTM1, PLEKHM1, TCIRG1, TNFRSF11A, TNFSF11.
Increased bone density group with metaphyseal and/or diaphyseal involvement: Diaphyseal dysplasia Camurati-Engelmann; Craniometaphyseal dysplasia; Hypertrophic osteoarthropathy; Cranioosteoarthropathy; Osteoectasia with hype Next Generation Sequencing of 7 gene panel: ANKH, DLX3, HPGD, LRP4, SOST, TGFB1, TNFRSF11B.
Infantile neuroaxonal dystrophy 1 Sanger Sequencing of the PLA2G6 gene
Infantile neuroaxonal dystrophy 1 Large deletion and duplication detection in the PLA2G6 by MLPA
Infectius disease VIH, Hepatitis B & C virus detection
Infertility associated to Spermatogenic failure 5 Sanger Sequencing of the AURKC gene
Inherited ataxias NGS of 99 gene panel: ABCB7, ABHD12, ADCK3, AFG3L2, AIMP1, ANO10, APTX, ATCAY, ATM, ATP8A2, ATR, BEAN1, C10orf2, CA8, CACNA1A, CACNB4, CEP290, COQ2, COQ9, CP, CYP27A1, DNAJC19, DNMT1, EEF2, ELOVL4, FAM126A, FGF14, FLVCR1, FMR1, FUS, FXN, GALC, GBA2, GOSR2, GRID2, GRM1, HEXA, HSD17B4, IFRD1, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, RUBCN, LYST, MRE11A, MTPAP, MTTP, NKX2-1, NPHP1, OPA1, PAX6, PC, PDGFB, PDHA1, PDSS1, PDSS2, PDYN, PHYH, PIK3R5, PLEKHG4, PLP1, POLG, POLR3B, PRKCG, PRNP, PRPS1, RPGRIP1L, SACS, SCARB2, SCN8A, SCP2, SETX, SIL1, SLC1A3, SLC20A2, SLC2A1, SLC9A6, SOD1, SPTBN2, STUB1, SYNE1, SYT14, TARDBP, TDP1, TGM6, TMEM67, TPP1, TTBK2, TTC19, TTPA, TUBB4A, VAMP1, VAPB, VLDLR, WWOX, ZNF592.
Inherited ataxias autosomal dominant NGS of 36 gene panel: ABCB7, ATR, BEAN1, C10orf2, CACNA1A, CACNB4, DNMT1, EEF2, ELOVL4, FGF14, FUS, IFRD1, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, NKX2-1, OPA1, PAX6, PDGFB, PDYN, PLEKHG4, POLG, PRKCG, PRNP, SCN8A, SLC1A3, SLC20A2, SOD1, SPTBN2, TARDBP, TGM6, TTBK2, TUBB4A, VAMP1.
Inherited ataxias autosomal recessive NGS of 58 gene panel: ABCB7, ABHD12, ADCK3, AFG3L2, AIMP1, ANO10, APTX, ATCAY, ATM, ATP8A2, CA8, CEP290, COQ2, COQ9, CP, CYP27A1, DNAJC19, FAM126A, FLVCR1, FXN, GALC, GBA2, GOSR2, GRID2, GRM1, HEXA, HSD17B4, KCNJ10, RUBCN, LYST, MRE11A, MTPAP, MTTP, NPHP1, PC, PDSS1, PDSS2, PHYH, PIK3R5, POLR3B, RPGRIP1L, SACS, SCARB2, SCP2, SETX, SIL1, SLC2A1, STUB1, SYNE1, SYT14, TDP1, TMEM67, TPP1, TTC19, TTPA, VLDLR, WWOX, ZNF592.
Inherited ataxias X-linked NGS of 6 gene panel: ABCB7, FMR1, PDHA1, PLP1, PRPS1, SLC9A6.
Inherited ataxias, syndromes NGS of 57 gene panel: ABCB7, ABHD12, ADCK3, AIMP1, APTX, ATM, ATP8A2, ATR, C10orf2, CA8, CEP290, COQ2, COQ9, CP, CYP27A1, DNAJC19, DNMT1, FAM126A, FLVCR1, FMR1, FXN, GALC, GOSR2, GRID2, HEXA, HSD17B4, ITM2B, KCNJ10, LYST, MRE11A, MTTP, NKX2-1, NPHP1, OPA1, PAX6, PDSS1, PDSS2, PHYH, PIK3R5, PLP1, POLG, POLR3B, PRNP, PRPS1, RPGRIP1L, SACS, SCARB2, SCP2, SIL1, SLC2A1, SLC9A6, TARDBP, TDP1, TMEM67, TTC19, TTPA, VLDLR.
Inherited dystonias NGS of gene panel: ACTB, ADCY5, ANO3, ATP1A3, ATP7B, CIZ1, COX20, DRD2, GCH1, GNAL, PRKRA, PRRT2, SCP2, SGCE, SLC2A1, SPR, SLC6A3, TAF1, TH, THAP1, TOR1A, TUBB4A.
Insensitivity to pain, channelopathy-associated Sanger Sequencing of the SCN9A gene
Intellectual Disability Subtelomeric rearrangements detection by MLPA
Intellectual Disability Detection of deletions/duplications in telomeric regions 9q, 10q,11q and 12q by MLPA
D.I. Autosomic Dominant. NGS of 68 gene panel: ARID1A, ARID1B, ASTN2, BEX4, BZRAP1, CACNG2, CADM1, CADPS2, CAMTA1, CDH15, CDH8, CDH9, CNTN4, CSMD1, CTCF, CTNNB1, DCP2, DIP2B, DLG1, DLG4, DOCK8, DYNC1H1, DYRK1A, EHMT1, EPB41L1, FOXP1, FOXP2, FXR1, GATAD2B, GLO1, GLRA3, GRIA1, GRIA2, GRIA4, GRIN1, GRIN2A, GRIN2B, GTF2I, HDAC4, IGF1R, KCNC3, KDM5B, KIF1A, KIRREL3, MBD5, MEF2C, NBEA, NCS1, NPTX2, NR1I3, NUFIP1, NUFIP2, OTX1, PACS1, QKI, RBFOX1, REST, SCN8A, SEMA5A, SMARCA4, SMARCB1, SNAP25, SRGAP3, STX1A, SYNGAP1, ZBTB18, ZC3H14, ZNF385B.
D.I. Autosomal Recessive. NGS of 27 gene panel: ADAT3, ANK3, CC2D1A, CIC, CRADD, CRBN, DLGAP2, FTO, GRIK2, HERC2, MAN1B1, MED23, NPTX2, NSUN2, PRSS12, QKI, SLC4A10, SLC4A4, SNIP1, SOBP, ST3GAL3, TAF2, TECR, TRAPPC9, TTI2, TUSC3, ZNF526.
D.I. X-Linked NGS of 53 gene panel: ACSL4, AGTR2, ARHGEF6, ARX, ASMT, ATRX, BRWD3, CASK, CCDC22, CLIC2, CNKSR2, CUL4B, DLG3, FGD1, FRMPD4, FTSJ1, GABRE, GDI1, GRIA3, HCFC1, HSD17B10, IL1RAPL1, IQSEC2, KIAA2022, KLF8, MAGT1, MAOA, MAOB, MECP2, NLGN3, NLGN4X, NXF2, NXF5, OPHN1, P2RY8, PAK3, PLXNA3, PLXNB3, PTCHD1, RAB39B, RPS6KA3, RPS6KA6, SOX3, SYP, TRPC5, TSPAN7, ZCCHC12, ZDHHC15, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81
Intellectual Disability autosomal recessive syndromes: Griscelli type 1, Schindler type I, III, Kanzaki, Porphyria variegata, Kohlschutter-Tonz, COACH, Senior-Loken, Marinesco-Sjogren, DOOR syndrome, Johanson-Blizzard, Cohen , Kjellin, Woodhouse-Sakati sy NGS of 13 gene panel: DCAF17, MYO5A, NAGA, PPOX, ROGDI, RPGRIP1L, SDCCAG8, SIL1, TBC1D24, UBR1, VPS13B, ZFYVE26, ZBTB24.
Intellectual Disability autosomal recessive syndromes: Mednik, Kufor-Rakeb, Temtamy, Marble Brain disease, Smith-Lemli-Opitz , Dyggve-Melchior-Clausen, Smith-McCort dysplasia, Ataxia posterior column, with retinitis pigmentosa; Bosley-Salih-Alorainy, Hama NGS of 12 gene panel: AP1S1, ATP13A2, C12orf57, CA2, CA6, DHCR7, DYM, FLVCR1, HOXA1, IRX5, KIF1BP, MKKS
Intellectual Disability in: Dyskeratosis congenita; Cerebrotendinous xanthomatosis; Ichthyosis, spastic quadriplegia, and mental retardation; IFAP syndrome with or without Bresheck syndrome; CHIME; CHILD; Cutis laxa; Beare-Stevenson cutis gyrata syndrom NGS of 11 gene panel: ALDH18A1, CYP27A1, DKC1, ELOVL4, FGFR2, MBTPS2, NSDHL, PIGL, PORCN, PYCR1, VCX3A
Intellectual Disability syndromes, autosomal dominant: Bohring-Opitz; CRI-DU-CHAT; Gilles de la Tourette; Koolen-De Vries; Birk-Barel dysmorphism; Williams-Beuren; Feingold; Phelan-McDermid; RIDDLE; Glass, Timothy, Schinzel , syndromes NGS of 13 gene panel: ASXL1, CACNA1C, CTNND2, EHMT1, IMMP2L, KANSL1, KCNK9, LIMK1, MYCN, SHANK3, RNF168, SATB2, TBX3
Intellectual disability with macrosomia: Simpson-Golabi-Behmel, Sotos, Weaver syndrome, Lujan-Fryns, Marshall-Smith syndromes NGS of 8 gene panel: GPC3, GPC4, OFD1, EZH2, NRCAM, NFIX, NSD1, MED12
Intellectual Disability X-linked NGS of 124 gene panel: ABCD1, ACSL4, AFF2, AGTR2, AMMECR1, AP1S2, AR, ARHGEF6, ARHGEF9, ARX, ASMT, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BEX4, BRWD3, CASK, CCDC22, CDK16, CDKL5, CLIC2, CNKSR2, CUL4B, DCX, DKC1, DLG3, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, G6PD, GABRE, GDI1, GK, GPC3, GPC4, GRIA3, HCCS, HCFC1, HDAC6, HDAC8, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KIAA2022, KLF8, L1CAM, LAMP2, MAGT1, MAOA, MAOB, MBTPS2, MECP2, MED12, MID1, MTM1, NAA10, NDP, NDUFA1, NHS, NLGN3, NLGN4X, NSDHL, NXF2, NXF5, OCRL, OFD1, OPHN1, OTC, P2RY8, PAK3, PDHA1, PGK1, PHF6, PHF8, PLP1, PLXNA3, PLXNB3, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RPS6KA3, RPS6KA6, SHROOM4, SLC16A2, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SYN1, SYP, TIMM8A, TRPC5, TSPAN7, UBE2A, UPF3B, VCX3A, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZIC3, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81.
Intellectual Disability, with epilepsy. NGS of 13 gene panel: ARHGEF9, BCKDK, CNTNAP2, DLG1, DLGAP2, GRIN2A, KCNJ10, MEF2C, SLC4A10, SNIP1, SRPX2, STXBP1, SYN1.
Intellectual Disability, X-linked, syndromes: FRAXE, Fried, FG, Fanconi anemia, Fragile X, Turner, Claes-Jensen, Nance-Horan, Siderius, Martin-Probst, Christianson, Snyder-Robinson, Nascimento, Mohr-Tranebjaerg, Raymond, Gorlin, Renpenning, Arts. NGS of 18 gene panel: AFF2, AP1S2, CASK, FANCB, FMR1, HUWE1, KDM5C, NHS, PHF8, PORCN, PQBP1, PRPS1, RAB40AL, SLC9A6, SMS, UBE2A, TIMM8A, ZDHHC9.
Intellectual Disability, X-linked, syndromes: Partington, Proud, Hedera, Menkes, Oculofaciocardiodental, Lubs, Rett, Lujan-Fryns, Opitz-Kaveggia, Opitz GBBB, Borjeson-Forssman-Lehmann. NGS of 8 gene panel: ARX, ATP6AP2, ATP7A, BCOR, MECP2, MED12, MID1, PHF6
Interstitial Lung Disease due to ABCA3 Deficiency Sanger Sequencing of the ABCA3 gene
Interstitial Lung Disease due to surfactant protein C deficiency Sanger Sequencing of the SFTPC gene
Intestinal pseudoobstruction, neuronal Next Generation Sequencing and Sanger Sequencing of the FLNA gene
Isolated Dystonias NGS of 3 gene panel: GNAL, THAP1, TOR1A.
Jackson-Weiss syndrome Sanger sequencing of the FGFR1 gene
Jervell-Lange-Nielsen syndrome Next Generation Sequencing of 2 gene panel: KCNE1, KCNQ1.
Jervell-Lange-Nielsen syndrome Sanger Sequencing of the KCNQ1 gene
Joubert Syndrome Sanger Sequencing of the AHI1 gene
Joubert Syndrome NGS of 23 gene panel: AHI1, ARL13B, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, INPP5E, KIF7, NPHP1, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423.
Joubert syndrome 5 NGS and Sanger Sequencing in the CEP290 gene
Joubert syndrome 6 Sanger sequencing of the TMEM67 gene
Joubert syndrome 7 NGS and Sanger Sequencing of the RPGRIP1L gene
Juvenile Hemochromatosis type 2A Sanger Sequencing of the HFE2 (HJV) gene
Juvenile Hemochromatosis type 2B Sanger Sequencing of the HAMP gene
Juvenile myelomonocytic leukemia Sanger sequencing of the CBL gene
Juvenile Polyposis Syndrome Sequencing of the BMPR1A gene
Juvenile Polyposis Syndrome MLPA detection of large deletions and duplications in the SMAD4 and BMPR1A genes
Juvenile Polyposis Syndrome NGS and detection of deletions/duplications by MLPA of 3 gene panel: BMPR1A, PTEN, SMAD4
Juvenile Polyposis Syndrome Sanger Sequencing of the SMAD4 gene
Juvenile polyposis syndrome SMAD4 and MLPA confirmation of CNVs previously detected in BMPR1A, PTEN, SMAD4 genes
Kabuki 1, 2; CHARGE; Townes-Brocks, syndromes NGS of 5 gene panel: CHD7, KDM6A, KMT2D, MACROD2, SALL1
Kallmann Syndrome type 2 Sanger sequencing of the FGFR1 gene
Karak syndrome Sanger Sequencing of the PLA2G6 gene
Keratosis palmoplantaris striata II NGS and Sanger sequencing of DSP gene
Kniest dysplasia NGS and Sanger Sequencing of the COL2A1 gene
Kniest dysplasia Large deletions and duplications in the COL2A1 gene by MLPA
Knobloch syndrome, type 1 NGS and Sanger Sequencing of the COL18A1 gene
Kok disease, Alacrima, achalasia, and mental retardation syndrome, Pseudohypoparathyroidism Ib, Hypoparathyroidism-retardation-dysmorphism syndrome; Thyroid hormone resistance NGS of 5 gene panel: GLRB, GMPPA, GNAS, TBCE, THRB
Kowarski syndrome Detection of deletions and/or duplications in GH1 gene by MLPA.
Kowarski syndrome Sanger sequencing of GH1 gene
L1 syndrome Sanger Sequencing of the L1CAM gene
Lactic Acidosis and Pyruvate metabolism disorders NGS of 86 gene panel:ACAD9, ADCK3, AGK, ALDH2, ATP5E, ATPAF2, BCS1L, BOLA3, COQ2, COQ9, COX10, COX14, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, EARS2, FARS2, ETFA, ETFB, ETFDH, ETHE1, FBP1, FH, G6PC, GFM1, GYS2, HLCS, ISCU, LIAS, LRPPRC, MPC1, MPC2, MRPS16, MRPS22, MTO1, NDUFA9, NDUFA11, NDUFAF1, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NFU1, PC , PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, PUS1, RMND1, RRM2B, SCO2, SERAC1, SLC25A3, SLC25A4, SLC37A4, SUCLA2, SUCLG1, SURF1, TAZ, TIMM44, TK2, TMEM70, TPK1, TRMU, TSFM, TUFM, TYMP, UQCRB, YARS2
Laing distal myopathy Next Generation Sequencing and Sanger Sequencing of the MYH7 gene
Laron Dwarfism Sanger secuencing of the GHR gene
Larsen syndrome NGS and Sanger Sequencing of the FLNB gene
Leber congenital amaurosis 10 NGS and Sanger Sequencing in the CEP290 gene
Leber congenital amaurosis 10 NGS of 20 gene panel: AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1.
Leber Hereditary Optic Neuropathy (LHON) Detection of mutations m.3460G>A, m.11778G>A, m.14484T>C, m.14482C>G, m.14495A>G, m.14498T>C, m.14596A>T in the mitochondrial
Left ventricular Non-Compaction Next Generation Sequencing of 8 gene panel: ACTC1, DTNA, LDB3, MYBPC3, MYH7, TAZ, TNNT2, TPM1.
Left ventricular noncompaction 1, with or without congenital heart def Sanger Sequencing of the DTNA gene
Left ventricular noncompaction 5 Next Generation Sequencing and Sanger Sequencing of the MYH7 gene
Left ventricular noncompaction 6 Sanger Sequencing of the TNNT2 gene
Legg-Calve-Perthes disease NGS and Sanger Sequencing of the COL2A1 gene
Legg-Calve-Perthes disease Large deletions and duplications in the COL2A1 gene by MLPA
Legius syndrome Detection of large deletions and/or duplications in SPRED1 gene by MLPA
Legius syndrome Sanger Sequencing of the SPRED1 gene
Leigh syndrome (nuclear type) NGS of 30 gene panel: AIFM1, BCS1L, COX10, COX15, FOXRED1, LRPPRC, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, PC, PDHA1, PET100, SCO2, SDHAF1, SURF1, TACO1, TTC19, UQCRQ
Leigh-like syndrome (nuclear type) NGS of 35 gene panel: ACAT1, AIFM1, AFG3L2, C12orf65, CA5A, DLD, EARS2, ETHE1, FARS2, FBXL4, GFM1, HSD17B10, LARS, LIAS, MARS, MTFMT, NDUFA1, PDHA1, PDHB, PDHX, PDSS2, PNPT1, POLG, SARS2, SERAC1, SLC19A3, SLC25A19, SLC25A13, SLC25A15, SUCLA2, SUCLG1, TPK1, TRMU, TSFM, UNG
Leiomyomatosis, diffuse, with Alport syndrome NGS + Sanger sequencing of the COL4A6 gene
Leopard syndrome Sanger Seq. of exons 7, 12 and 13 of the PTPN11 gene
Leopard syndrome Next Generation Sequencing of 3 gene panel: BRAF, PTPN11, RAF1
Lesch-Nyhan syndrome Sanger Sequencing of the HPRT1 gene
Lethal congenital contracture syndrome 1 Sanger Sequencing of the GLE1 gene
Leukodystrophies and Leukoencephalopathies NGS of 20 gene panel: ABCD1, AIMP1, ARSA, CLCN2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, GALC, GJC2, HSPD1, LMNB1, PLP1, POLR3A, POLR3B, PSAP, TREX1, TUBB4A
Leukodystrophy, adult-onset, autosomal dominant Detection of deletions and/or duplications in LMNB1 gene by MLPA
Leukodystrophy, hypomyelinating, 5 Sanger Sequencing of the FAM126A gene.
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or Sanger sequencing of the POLR3A gene
Leukodystrophy, hypomyelinating, Pelizaeus-Merzbacher disease NGS of 8 gene panel: AIMP1, FAM126A, GJC2, HSPD1, PLP1, POLR3A, POLR3B, TUBB4A
Leukoencephalopathy with vanishing white matter and Ovarioleukodystrophy Next Generation Sequencing of 5 gene panel: EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5
Leukoencephalopathy, diffuse hereditary, with spheroids Sanger sequencing of the CSF1R gene
Li Fraumeni Syndrome Sanger sequencing of the TP53 gene
Li Fraumeni, Li Fraumeni like, syndromes NGS of 4 gene panel: CHEK2, TP53, POT1, DICER1
Liddle syndrome Sanger Seq.of 13 exon of the SCNN1B and SCNN1G genes
Liddle syndrome Sanger Sequencing of the SCNN1B gene
Liddle syndrome Sanger Sequencing of the SCNN1G gene
Limb hypoplasia reduction defects group: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Orofacial cleft 5, 8; Split-hand/foot malformation 4, 6; Acheiropodia; Tetra-amelia; Ankyloblepharon-ectodermal Next Generation Sequencing of 4 gene panel: LMBR1, TP63, WNT3, WNT10B.
Lipodystrophy, congenital generalized, type 2 Sanger Sequencing of the BSCL2 gene
Lissencephaly 1 Sanger Sequencing of the PAFAH1B1 gene
Lissencephaly, X-Linked Sanger Sequencing of the ARX gene
Lissencephaly; Subcortical laminar heterotopia; Periventricular heterotopia. NGS of 8 gene panel: ARX, DCX, FLNA, LAMB1, PAFAH1B1, RELN, TUBA1A, YWHAE
Loeys-Dietz Syndrome Sanger Sequencing of the TGFBR2 gene
Loeys-Dietz Syndrome NGS of 3 gene panel: SMAD3, TGFBR1, TGFBR2
Loeys-Dietz Syndrome NGS of3 gene panel:SMAD3,TGFBR1,TGFBR2 & Detection of large deletions and/or dupl.in genes TGFBR1, TGFBR2 by MLPA
Loeys-Dietz Syndrome TGFBR1 and TGFBR2 large deletions and duplications detection by MLPA
Loeys-Dietz Syndrome, type 1A Sanger sequencing of the TGFBR1 gene
Long QT related to Andersen, Timothy & Jervell and Lange-Nielsen disea Next Generation Sequencing of 3 gene panel: KCNJ2, CACNA1C, KCNQ1
Long QT syndrome Detection of large deletions and/or duplications in the KCNQ1, KCNE1, KCNH2, KCNE2 and SCN5A genes by MLPA
Long QT syndrome Next Generation Sequencing of 13 gene panel: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA
Long QT syndrome Next Generation Sequencing of 13 gene panel: AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1 and detection of large deletions and/ or duplications in the KCNE1, KCNQ1, KCNH2, KCNE2, SCN5A genes by MLPA
Long QT syndrome Next Generation Sequencing and Sanger Sequencing of the SCN5A gene
Long QT syndrome-11 NGS and Sanger Sequencing of the AKAP9 gene
Long QT syndrome-2 Sanger Sequencing of the KCNH2 gene
Long QT syndrome-4 NGS and Sanger Sequencing of the ANK2 gene
Lowe syndrome Sanger Sequencing of the OCRL1 gene
Lung Cancer Sanger Sequencing of exons 14 to 28 of the EGFR gene
Lung Cancer (ROS1) rearrangement, t(6q22.1) by FISH
Lung Cancer Mutations in exons 18, 19, 20 and 21 of the EGFR gene by Therascreen
Lung Cancer Sanger sequencing of exons 18, 19, 20, 21 of the EGFR gene
Lung Cancer FISH RET rearrangements (10q11.21)
Lysosomal bone disorders: Geleophysic dysplasia, Otospondylomegaepiphyseal dysplasia, Pycnodysostosis, Smith-McCort dysplasia, NGS of 6 gene panel: ADAMTSL2, COL11A2, COL2A1, CTSK, DYM, RAB33B.
Lysosomal metabolic disorders: Aspartylglucosaminuria, Cystinosis, Galactosialidosis, Cerebral creatine deficiency, Sialuria, Malonyl-CoA decarboxylase deficiency, Mevalonic aciduria, Multiple sulfatase deficiency, Xanthinuri NGS of 12 gene panel: AGA, CTNS, CTSA, GAMT, GATM, GNE, MLYCD, MVK, SLC17A5, SLC6A8, SUMF1, XDH
Lysosomal syndromes: Chediak-Higashi, Smith Lemli Opitz, Simpson Golabi, Kabuki, Griscelli, Smith Magenis, Pitt Hopkins. NGS of 12 gene panel: DHCR7, GPC3, KDM6A, KMT2D, LAMP1, LYST, MLPH, MYO5A, OFD1, RAB27A, RAI1, TCF4
Lysyl hydroxylase 3 deficiency Sanger Sequencing of the PLOD3 gene
Macrothrombocytopenia and progressive sensorineural deafness Next Generation Sequencing and Sanger Sequencing of the MYH9 gene
Majeed syndrome Sanger Sequencing of the LPIN2 gene
Malignant Melanoma Detection of the V600E and V600K mutations in BRAF gene in tumoral tissue related to malignant melanome treatment
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome Sanger Sequencing of the POLD1 gene
Maple syrup urine disease NGS of 4 gene panel: BCKDHB, BCKDHA, DBT, PPM1K
Marfan syndrome Detection of large deletions and/or duplications in the FBN1 gene by MLPA
Marfan syndrome NGS and Sanger FBN1 gene
Marinesco-Sjogren syndrome Sanger Sequencing of the SIL1 gene
Marshall syndrome Next Generation Sequencing and Sanger Sequencing of the COL11A1 gene
Marshall syndrome, Weissenbacher-Zweymuller syndrome, Knobloch syndrome, type 1, Kniest dysplasia, Wagner syndrome 1 Next Generation Sequencing of 5 gene panel: COL11A1, COL11A2, COL2A1, COL18A1, VCAN
MASA syndrome Sanger Sequencing of the L1CAM gene
MASS syndrome NGS and Sanger FBN1 gene
May-Hegglin anomaly Next Generation Sequencing and Sanger Sequencing of the MYH9 gene
Meckel syndrome type 4 NGS and Sanger Sequencing in the CEP290 gene
Meckel syndrome, type 3 Sanger sequencing of the TMEM67 gene
Meckel syndrome, type 5 NGS and Sanger Sequencing of the RPGRIP1L gene
Meckel, Syndrome NGS of 11 gene panel: B9D1, B9D2, CC2D2A, CEP290, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM216, TMEM231, TMEM67
Mediterranean Fever, familial Sanger Sequencing of the MEFV gene
Mediterranean Fever, familial Detection of mutations M680I, V726A, M694V, M694I, K695R, A744S, R761H, 692del, A653H and A408G in MEFV gene
Mediterranean Fever, familial Detection of mutations E148Q, G167A and T267I in the MEFV gene
Medullary cystic kidney disease 1 Sanger sequencing of the MUC1 gene
Medullary Cystic Kidney Disease 2 Sanger Sequencing of exons 3,4,5 and 7 of the UMOD gene
Medullary Cystic Kidney Disease 2 Sanger Sequencing of the UMOD gene
Medulloblastoma, desmoplastic Sanger sequencing of the SUFU gene
Medulloblastoma, desmoplastic Sanger sequencing of the PTCH2 gene
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic Sanger sequencing of the PIK3CA gene
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome; Polymicrogyria (P) bilateral frontoparietal; P. symmetric or asymmetric; P. with seizures; P. with optic nerve hypoplasia; Cortical dysplasia, complex, with other brain malformations; Ba NGS of 10 gene panel: ADGRG1, AKT3, DYNC1H1, HEPACAM, OCLN, PIK3R2, RTTN, TUBA8, TUBB2B, TUBB3
MEGDEL syndrome (3-methylglutaconic aciduria with deafness - encephalopathy - Leigh-like syndrome) Sanger sequencing of the SERAC1 gene
Meier-Gorlin syndrome 1 Sanger Sequencing of the ORC1 gene
Melanoma and neural system tumor syndrome Detection of deletions and/or duplications in CDKN2A gene by MLPA
Melanoma and Tumor predisposition syndrome NGS of 6 gene panel: BAP1, CDK4, CDKN2A, MITF, POT1, TERT
Melanoma, cutaneous malignant, susceptibility to, 3 Sanger Sequencing of the CDK4 gene
Melanoma, familial Sanger Sequencing of the CDKN2A (p16) gene
Melanoma, familial Melanoma Genetic and phenotypic risk
MELAS syndrome Detection of mutations 3243A>G, 3271T>C and 3252A>G in the mitochondrial gene MTTL1
MELAS syndrome Detection of mutations 12770A>G, 13045A>C, c.1308484A>T, 13513G>A and 13514A>G in the MTND5 mitochondrial gene
MELAS syndrome Sanger Sequencing of the MTND5 mitochondrial gene
Melnick-Needles syndrome Next Generation Sequencing and Sanger Sequencing of the FLNA gene
Menkes disease NGS and Sanger Sequencing of the ATP7A gene
Menkes disease Detection of large deletions and/or duplications in the ATP7A gene by MLPA
Mental retardation (MR) with or without quadrupedal locomotion; Cerebral palsy, spastic quadriplegic; Encephalopathy, neonatal severe; Diabetes mellitus, permanent neonatal with MR; IGF1 deficiency; MR and microcephaly with pontine and cerebellar hypopla NGS of 11 gene panel: ATP8A2, CA8, CASK, DLG1, GAD1, GCK, IGF1, KANK1, MECP2, VLDLR, WDR81
Mental retardation with language impairment and autistic features Sanger Sequencing of the FOXP1 gene
Mental retardation witn skeletal dysplasia: Apert; Beare-Stevenson cutis gyrata; Saethre-Chotzen; Muenke; FG 2; Rubinstein-Taybi; Craniofacial dysmorphism, skeletal anomalies, and MR; Skeletal defects, genital hypoplasia, and MR; Arthrogryposis, MR; Ch NGS of 8 gene panel: CREBBP, FGFR2, FGFR3, HCCS, HDAC6, SLC35A3, TMCO1, ZBTB16
Mental retardation, autosomal dominant 13 NGS and Sanger Sequencing of the DYNC1H1 gene
Mental retardation, autosomal dominant 9 NGS and Sanger Sequencing of the KIF1A gene
Mental retardation, autosomal recessive 2 Sanger Sequencing of the CRBN gene
Mental retardation, autosomal recessive 38 NGS and Sanger sequencing of HERC2 gene
Mental retardation, X-linked Sanger Sequencing of the ARX gene
D.I. X-Linked NGS of 53 gene panel: ACSL4, AGTR2, ARHGEF6, ARX, ASMT, ATRX, BRWD3, CASK, CCDC22, CLIC2, CNKSR2, CUL4B, DLG3, FGD1, FRMPD4, FTSJ1, GABRE, GDI1, GRIA3, HCFC1, HSD17B10, IL1RAPL1, IQSEC2, KIAA2022, KLF8, MAGT1, MAOA, MAOB, MECP2, NLGN3, NLGN4X, NXF2, NXF5, OPHN1, P2RY8, PAK3, PLXNA3, PLXNB3, PTCHD1, RAB39B, RPS6KA3, RPS6KA6, SOX3, SYP, TRPC5, TSPAN7, ZCCHC12, ZDHHC15, ZMYM3, ZNF41, ZNF630, ZNF711, ZNF81
Mental retardation, X-linked syndromic, Christianson type Sanger Sequencing of the SLC9A6 gene
Mental retardation, X-linked, syndromic, Claes-Jensen type Sanger sequencing of the KDM5C gene
Mental retardation, X-linked, syndromic, Hedera type Sanger sequencing of the ATP6AP2 gene
MERRF syndrome Detection of mutations 8344A>G, 8356T>C and 8363G>A in the mitochondrial gene MTTK
Mesomelic and rhizo-mesomelic dysplasias: Leri-Weill dyschondrosteosis, Madelung wrist deformity, Langer type, Omodysplasia, Meier-Gorlin syndrome 1, Robinow syndrome, autosomal recessive Next Generation Sequencing of 4 gene panel: GPC6, ORC1, ROR2, SHOX
Metachromatic leukodystrophy Sanger sequencing of the ARSA gene
Metaphyseal chondrodysplasia, Schmid type Sanger sequencing of the COL10A1 gene
Metaphyseal dysplasias: Metaphyseal dysplasia, Schmid type, Jansen type, Eiken dysplasia, Cartilage-hair hypoplasia (CHH; metaphyseal dysplasia, McKusick type), Metaphyseal anadysplasia type 1, 2. Next Generation Sequencing of 5 gene panel: COL10A1, MMP13, MMP9, PTH1R, RMRP
Metatropic dysplasia Sanger Sequencing of the TRPV4 gene
Methemoglobinemia, type I, II Sanger sequencing of the CYB5R3 gene
Methylglutaconic Aciduria and 3-Methylcrotonyl-CoA carboxylase deficiency NGS of 13 gene panel: AGK, ATP5E, ATPAF2, AUH, DNAJC19, MCCC1, MCCC2, OPA3, POLG, SERAC1, SUCLA2, TAZ, TMEM70
Methylmalonic Acidemia Sanger Sequencing of the MUT gene
Methylmalonic aciduria and homocystinuria, cblC type Sanger Sequencing of the MMACHC gene
Methylmalonic aciduria and Ethylmalonic encephalopathy NGS of 13 gene panel: ABCD4, CD320, LMBRD1, MCEE, MMAA, MMAB, MMACHC, MMADHC, MUT, PCCA, PCCB, SUCLA2, SUCLG1
Microcephalic osteodysplastic primordial dwarfism, type II NGS and Sanger Sequencing of the PCNT gene
Microcephaly (M) primary; M. with or without Chorioretinopathy, lymphedema, mental retardation; Mental retardation and M. with pontine and cerebellar hypoplasia; M. with capillary malformation syndrome; M. with or without cortical malformations; M., seiz NGS of 16 gene panel: ASPM, CASC5, CASK, CDK19, CDK5RAP2, CENPJ, CEP135, CEP152, KIF11, MCPH1, PHC1, PNKP, STAMBP, STIL, WDR62, ZNF335
Microphthalmia, syndromic 3 Sanger Sequencing of the SOX2 gene
Microphthalmia, syndromic 3 Large deletions and duplications detection in the SOX2 gene by MLPA
Microphthalmia, syndromic 5 Sanger Sequencing of the OTX2 gene.
Microphthalmia, syndromic; Optic nerve hypoplasia and abnormalities of the central nervous system; Chondrodysplasia with platyspondyly, hydrocephaly, and microphthalmia; Cerebellar ataxia with mental retardation, optic atrophy and skin abnormalities CAMO NGS of 7 gene panel: BCOR, HCCS, SOX2, STRA6, TUBA8, ZNF592, PAX6
Microtia with or without hearing impairment and/or cleft palate Sanger sequencing of the HOXA2 gene
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia NGS and Sanger Sequencing in the CACNA1A gene
Migraine, familial, autosomal dominant NGS of 7 gene panel: ATP1A2, CACNA1A, KCNK18, NOTCH3, PDGFRB, SCN1A, TREX1
Miller Syndrome Sanger sequencing of the DHODH gene
Miotubular myopathy, autosomal dominant Sanger Sequencing of the DNM2 gene
Miotubular myopathy, autosomal dominant Mutation screening in exons 8,11,15,16,17,18 and 21 of DNM2 gene
Mitochondrial complex I deficiency NGS of 27 gene panel: ACAD9, COA6, ECSIT, FOXRED1, NDUFA1, NDUFA11, NDUFA2, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB7, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS8, NDUFV1, NDUFV2, NUBPL
Mitochondrial complex II and III deficiency and Gracile, Bjornstad syndromes. NGS of 9 gene panel: BCS1L, CYC1, LYRM7, SDHAF1,TTC19, UQCC2, UQCRB, UQCRC2, UQCRQ
Mitochondrial DNA depletion syndrome 4B (MNGIE type) NGS and Sanger Sequencing of the POLG gene
Mitochondrial DNA Depletion type 4A, Alpers-Huttenlocher syndrome Detection of mutations p.Ala467Thr, p.Trp748Ser and p.Gly848Ser in the POLG gene
Mitochondrial DNA Depletion type 4A, Alpers-Huttenlocher syndrome NGS and Sanger Sequencing of the POLG gene
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), or Mitochondrial DNA depletion syndrome Sanger Sequencing of the TYMP gene
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) NGS and Sanger Sequencing of the POLG gene
Mitochondrial respiratory chain complex II deficiency Sanger sequencing of the SDHA gene
Mitochondrial complex IV deficiency NGS of 10 gene panel: COA5, COX10, COX14, COX20, COX6B1, FASTKD2, PET100, SCO1, SCO2, TACO1
Mitochondrial complex V deficiency NGS of 4 gene panel: ATPAF2, ATP5A1, ATP5E, TMEM70
Mitochondrial DNA depletion (hepatocerebral type), Mitochondrial recessive ataxia (includes SANDO and SCAE), Alpers AR/ Mitochondrial complex III deficiency, nuclear. NGS of 3 gene panel: C10orf2, POLG, TTC19
Mitochondrial DNA depletion syndrome (cardiomyopathic and myopathic types) NGS of 4 gene panel: AGK, MGME1, SLC25A4, TK2
Mitochondrial DNA depletion syndrome (hepatocerebral and Alpers type). NGS of 4 gene panel: C10orf2, DGUOK, MPV17, POLG
Mitochondrial DNA depletion syndrome (neurogastrointestinal encephalopathy, MNGIE type) with or without renal tubulopathy, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) NGS of 3 gene panel: POLG, RRM2B, TYMP
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with or without methylmalonic aciduria) NGS of 3 gene panel: FBXL4, SUCLA2, SUCLG1
Mitochondrial DNA depletion syndromes NGS of 13 gene panel: AGK, C10orf2, DGUOK, FBXL4, MGME1, MPV17, POLG, RRM2B, SLC25A4, SUCLA2, SUCLG1, TK2, TYMP
Miyoshi muscular dystrophy 3 NGS and Sanger Sequencing of the ANO5 gene
Molecular Oncohematology Molecular detection BCR/ABL rearrangement
Molecular Oncohematology BCR-ABL mRNA quantification
Molecular Oncohematology Molecular detection IGH rearrangement
Molecular Oncohematology Molecular detection TCR rearrangement (Beta y Gamma)
Molecular Oncohematology Molecular detection PML/RARA rearrangement
Molecular Oncohematology Molecular detection CBFB/MYH11 rearrangement
Molecular Oncohematology FLT3 Mutations
Molecular Oncohematology NPM1 Mutations
Molecular Oncohematology ABL 5' Mutations
Molecular Oncohematology V617F JAK-2 Mutation
Molecular Oncohematology c-KIT Mutations
Molecular Oncohematology Molecular detection specific mutations
Molecular Oncohematology Q-PCR Bcl-2 rearrangement
Molecular Oncohematology Molecular detection AML1/ETO rearrangement
Molecular Oncohematology Q-PCR BCR/ABL rearrangement
Molecular Oncohematology Molecular detection BCR/ABL rearrangement
Molecular Oncohematology Molecular detection Bcl-2 rearrangement, MBR region
Molybdenum cofactor deficiency NGS of 3 gene panel: GPHN, MOCS1, MOCS2
Monilethrix Sanger Sequencing of KRT81 and KRT86 genes
Mononeuropathy of the median nerve, mild Sanger Sequencing of the SH3TC2 gene
Morbid Obesity Sanger Sequencing of the LEP gene
Morbid Obesity Sanger Sequencing of the MC4R gene
Mowat-Wilson Syndrome Sanger Sequencing of the ZEB2 gene and deletion/duplication testing by MLPA
Mowat-Wilson Syndrome NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2
Mowat-Wilson Syndrome Detection of large deletions and/or duplications in the ZEB2 gene by MLPA
MTHFR deficiency Detection of polymorphism A222V in the MTHFR gene
Mucolipidosis, Sialidosis. NGS of 4 gene panel: GNPTAB, GNPTG, MCOLN1, NEU1
Mucopolysaccharidosis I Sanger Sequencing of the IDUA gene
Mucopolysaccharidosis Type II Sanger Sequencing of the IDS gene
Mucopolysaccharidosis Type II Detection of deletions and/or duplications in IDS gene by MLPA
Mucopolysaccharidosis Type IIIA Sanger sequencing of gene SGSH
Mucopolysaccharidosis Type IVA Sanger Sequencing of the GALNS gene
Mucopolysaccharidosis Type VI Sanger Sequencing of the ARSB gene
Mucopolysaccharidosis types: Morquio, Scheie, Hurler, Hurler-Scheie, Maroteaux Lamy, Sly, Sanfilippo A, B, C, D, Hunter y IX. NGS of 11 gene panel: ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH
Muenke syndrome Detection of mutation P250R mutation in the FGFR3 gene
Muir-Torre syndrome Sanger Sequencing of the MLH1 gene
Muir-Torre syndrome NGS of 3 gene panel: MLH1, MHS2, MSH6
Multiminicore Disease Next Generation Sequencing and Sanger Sequencing of the RYR1 gene
Multiple Cavernomatosis Detection of mutation c.1363C>T on the KRIT1 gene
Multiple Cavernomatosis Sanger sequencing of the KRIT1 gene
Multiple Cavernomatosis Sanger Sequencing of the CCM2 gene
Multiple Cavernomatosis Sanger Sequencing of the PDCD10 gene
Multiple Cavernomatosis Detection of deletions and/or duplications in KRIT1, CCM2 y PDCD10 genes by MLPA
Multiple Endocrine Neoplasia type I Sanger sequencing of the MEN1 gene
Multiple Endocrine Neoplasia type I Large deletions and duplications detections in the MEN1 gene by MLPA
Multiple Endocrine Neoplasia, type 2 Sanger Sequencing of the RET gene
Multiple Endocrine Neoplasia, type 3 Sanger Sequencing of exons 10, 11, 13, 14,15 y 16 of the RET gene
Multiple Epiphyseal Dysplasia Sanger Seq.of exons 8, 9, 10, 11, 12, 13, 14, 15, 16, 17 and 19 of the COMP gene
Multiple Epiphyseal Dysplasia Sanger Sequencing of the COMP gene
Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia group: Epiphyseal dysplasia, multiple (MED), type 4, AR, MED with early-onset diabetes mellitus, AR. Next Generation Sequencing of 2 gene panel: EIF2AK3, SLC26A2
Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia group: Pseudoachondroplasia, MED type 1, 2, 3, 5, 6, Stickler syndrome. Next Generation Sequencing of 6 gene panel: COL2A1, COL9A1, COL9A2, COL9A3, COMP, MATN3
Multiple pterygium syndrome, lethal type and Escobar syndrome Next Generation Sequencing of 3 gene panel: CHRNA1, CHRND, CHRNG
Multiple pterygium syndrome, lethal type and Escobar syndrome Sanger Sequencing of the CHRNA1 gene
Multiple pterygium syndrome, lethal type and Escobar syndrome Sanger Sequencing of the CHRND gene
Multiple pterygium syndrome, lethal type and Escobar syndrome Sanger Sequencing of the CHRNG gene
Muscular dystrophies, congenital. Next Generation Sequencing of 15 gene panel: COL6A1, COL6A2, COL6A3, FKRP, FKTN, ITGA7, LARGE, LAMA2, LMNA, PABPN1, PLEC, POMGNT1, POMT1, POMT2, SEP
Muscular Dystrophy Limb-Girdle type 2A (LGMD2A) NGS and Sanger sequencing of CAPN3 gene
Muscular Dystrophy, autosomal dominant, autosomal recessive and X-link Next Generation Sequencing of 25 gene panel: ANO5, CAPN3, CAV3, DAG1, DMD, DYSF, EMD, FHL1, FKRP, FKTN, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, SYNE1, SYNE2, TCAP, TRIM32, TTN
Muscular Dystrophy, Congenital Merosin-Deficient (MDC1A) Next Generation Sequencing and Sanger Sequencing of the LAMA2 gene
Muscular dystrophy, congenital merosin-deficient, megaconial type, ITG Next Generation Sequencing of 7 gene panel: CHKB, ITGA7, LAMA2, LMNA, PABPN1, PLEC, SEPN1
Muscular dystrophy, limb-girdle, type 2B NGS and Sanger Sequencing of the DYSF gene
Muscular dystrophy, limb-girdle, type 2C etection of large deletions and/or duplications in SGCG gene by MLPA
Muscular dystrophy, limb-girdle, type 2J NGS and Sanger Sequencing of the TTN gene
Muscular dystrophy, limb-girdle, type 2L NGS and Sanger Sequencing of the ANO5 gene
Muscular dystrophy, limb-girdle, type IC Sanger Sequencing of the CAV3 gene
Muscular dystrophy, limb-girdle, types 1A, 1B, 1C, autosomal dominant Next Generation Sequencing of 3 gene panel: CAV3, LMNA, MYOT
Muscular dystrophy, limb-girdle, types 2A, 2B, 2C, 2D, 2E, 2F, 2G, 2H, Next Generation Sequencing of 18 gene panel: ANO5, CAPN3, CAV3, DAG1, DYSF, FKRP, FKTN, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32, TTN
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye Next Generation Sequencing of 6 gene panel: FKRP, FKTN, LARGE, POMGNT1, POMT1, POMT2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye NGS of 16 gene panel: B3GALNT2, B4GAT1, FKRP, FKTN, GMPPB, ISPD, ITGA7, LARGE, MTM1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SGCA, TMEM5
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 Detection of deletions and/or duplications in POMT1 gene by MLPA
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 and 5 NGS of the FKTN and FKRP genes
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies; Myotubular myopathy, X-linked, NGS of 16 gene panel: B3GALNT2, B4GAT1, FKRP, FKTN, GMPPB, ISPD, ITGA7, LARGE, MTM1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, SGCA, TMEM5
Myasthenia, congenital, with tubular aggregates 1 NGS and Sanger Sequencing of the GFPT1 gene
Myasthenia, limb-girdle, familial, with or without tubular aggregates NGS and Sanger Sequencing of the AGRN gene
Myasthenic Syndrome Congenital Sanger Sequencing of the CHRNA1 gene
Myasthenic Syndrome Congenital Sanger Sequencing of the CHRND gene
Myasthenic syndrome, acetazolamide-responsive Sanger sequencing of the SCN4A gene
Myasthenic syndrome, congenital, associated with episodic apnea, Myast Next Generation Sequencing of 2 gene panel: CHAT, VAMP2
Myasthenic syndrome, congenital,? Presynaptic, synaptic and postsynaptic types Next Generation Sequencing of 13 gene panel: AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GFPT1, MUSK, RAPSN, SCN4A
Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects NGS and Sanger Sequencing of the AGRN gene
Myasthenic syndromes, congenital NGS of 15 gene panel: AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, DOK7, DPAGT1, GFPT1, MUSK, RAPSN, SCN4A, VAMP2.
Myasthenic syndromes, congenital, with tubular aggregates NGS of 2 gene panel: DPAGT1, GFPT1
Myelodysplastic syndrome, somatic Sanger sequencing of the SF3B1 gene
Myelofibrosis Sanger sequencing of exon 12 of the MPL gene
Myelofibrosis, somatic Deletion/duplication study of CALR mutations (types I and II)
Myoadenylate deaminase deficiency Detection of mutation Q12* in the AMPD1 gene
Myoadenylate deaminase deficiency Sanger Sequencing of the AMPD1 gene
Myoclonus Dystonia 11 Sanger Sequencing of exons 1-7 and 9 of the SGCE gene
Myoclonus Dystonia 11 Sanger sequencing of the SGCE gene
Myoclonus Dystonia 11 Detection of large deletions and/or duplications in SGCE gene by MLPA
Myopathies, autosomal dominant, autosomal recessive and X-linked. Next Generation Sequencing of 34 gene panel: ACTA1, ATP2A1, BAG3, BIN1, CAV3, CFL2, CLCN1, CNTN1, COL6A1, COL6A2, COL6A3, CRYAB, DES, DNM2, DYSF, FHL1, FLNC, GNE, ISCU, KBTBD13, LDB3, MATR3, MTM1, MYH2, MYH7, MYOT, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3, TTN, VCP
Myopathy due to CPT II deficiency Sanger sequencing of the CPT2
Myopathy related to Epiphyseal dysplasia, Optic atrophy with or without deafness, ophthalmoplegia, Amyloidosis, finnish-type, Scapuloperoneal, Barth, Schwartz-Jampel syndromes Next Generation Sequencing of 6 gene panel: COL9A3, GSN, HSPG2, MYH7, OPA1, TAZ
Myopathy, Brody, Compton-North, with early respiratory muscle and cardiomyopathy, or with postural muscle atrophy & Myotonia congenita, Next Generation Sequencing of 5 gene panel: ATP2A1, CLCN1, CNTN1, FHL1, TTN
Myopathy, centronuclear NGS of BIN1, DNM2 gene panel.
Myopathy, congenital, distal, 2,4, Nonaka, Tateyama, Rippling muscle disease, Next Generation Sequencing of 6 gene panel: CAV3, DYSF, FLNC, GNE, MATR3, MYH7.
Myopathy, congenital, with fiber-type disproportion, with uniform type 1 fiberautosomal dominant. Next Generation Sequencing of 4 gene panel: ACTA1, RYR1, SEPN1, TPM3
Myopathy, early-onset, with fatal cardiomyopathy NGS and Sanger Sequencing of the TTN gene
Myopathy, myofibrillar, BAG3, CRYAB, DES, FLNC, MYOT, ZASP- related, autosomal dominant, autosomal recessive. Next Generation Sequencing of 6 gene panel: BAG3, CRYAB, DES, FLNC, LDB3, MYOT.
Myopathy, myosin storage Next Generation Sequencing and Sanger Sequencing of the MYH7 gene
Myopathy, nemaline, autosomal dominant & recessive Next Generation Sequencing of gene 7 panel: ACTA1, CFL2, KBTBD13, NEBN, TNNT1, TPM2, TPM3
Myopathy, proximal, with early respiratory muscle involvement NGS and Sanger Sequencing of the TTN gene
Myopathy, X-linked, with excessive autophagy Sanger Sequencing of the VMA21 gene
Myosclerosis, congenital Next Generation Sequencing and Sanger Sequencing of the COL6A2 gene
Myotonia Congenita Sanger sequencing of the CLCN1 gene
Myotonia Congenita Detection of deletions and/or duplications in CLCN1 gene by MLPA
Myotonia congenita, atypical, acetazolamide-responsive Sanger sequencing of the SCN4A gene
Myotonia congenita, recessive Detection of deletions and/or duplications in CLCN1 gene by MLPA.
Myotonia congenita, Neuromyotonia and axonal neuropathy, autosomal recessive, Schwartz-Jampel 1 NGS of 3 gene panel: CLCN1, HINT1, HSPG2.
Myotonic Dystrophy Type 2 CCTG Expansion detection in the CNBP gene
Nail Patella syndrome Sanger Sequencing of the LMX1B gene
Nance-Horan syndrome Sanger Sequencing of the NHS gene
Narcolepsy Molecular study of HLA-DRB1
Naxos, disease Sanger Sequencing of the JUP gene
Neonatal osteosclerotic dysplasias: Raine syndrome, Blomstrand dysplasia, Caffey disease (including infantile and attenuated forms), Chondrodysplasia, Grebe type Next Generation Sequencing of 4 gene panel: COL1A1, FAM20C, GDF5, PTH1R
Nephronophthisis 1, juvenile Sanger sequencing of the NPHP1 gene
Nephronophthisis 11 Sanger sequencing of the TMEM67 gene
Nephronophthisis 12 NGS and Sanger Sequencing of the TTC21B gene
Nephronophthisis; Senior-Loken syndrome; Renal tubular acidosis, proximal, with ocular abnormalities; proximal renal tubular acidosis, mental retardation, and bilateral glaucoma; Ciliary dyskinesia, primary, 15 NGS of 7 gene panel: CCDC40, INVS, NPHP1, SDCCAG8, SLC4A4, TTC21B, ZNF423
Nephrotic Syndrome, Steroid-Resistant Sanger Sequencing of the NPHS2 gene
Nephrotic syndrome, type 1 Sanger Sequencing of the NPHS1 gene
Nervous System/Brain Tumors NGS of 6 gene panel: NF2, POT1, RB1, TSC1, TSC2, VHL
Neural tube defects Sanger Sequencing of the FUZ gene
Neural tube defects Sanger Sequencing of the VANGL1 gene
Neural tube defects Sanger Sequencing of the VANGL2 gene
Neurocardiofacialcutaneous syndromes Next Generation Sequencing of 12 gene panel: BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2 NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1
Neurodegeneration with brain iron accumulation 1 Sanger Sequencing of the PANK2 gene
Neurodegeneration with brain iron accumulation 1 Sanger Sequencing of the PLA2G6 gene
Neurodegeneration with brain iron accumulation 1 NGS of 8 gene panel: C19orf12, COASY, FOLR1, FTL, NALCN, PANK2, PLA2G6, WDR45
Neurodegeneration with brain iron accumulation 1 Large deletion and duplication detection in the PLA2G6 by MLPA
Neurodegeneration with brain iron accumulation; Neurodegeneration due to cerebral folate transport deficiency; Neuroaxonal neurodegeneration, infantile, with facial dysmorphism. NGS of 8 gene panel: C19orf12, COASY, FOLR1, FTL, NALCN, PANK2, PLA2G6, WDR45
Neuroferritinopathy Detection of the c.460 461insA mutation in the FTL gene
Neuroferritinopathy Sanger sequencing of the FTL gene
Neurofibromatosis, type 1 Sanger Sequencing of complementary DNA corresponding to messenger RNA from the NF1 gene
Neurofibromatosis, type 1 Detection of large deletions and/or duplications in the NF1 gene by MLPA
Neurofibromatosis, type 2 Detection of large deletions and/or duplications in the NF2 gene
Neurofibromatosis, type 2 Sanger Sequencing of the NF2 gene
Neurological syndromes associated with Hearing Loss NGS of 5 gene panel: MYH14, PRPS1, TIMM8A, WFS1, Z CISD2.
Neuromyotonia and axonal neuropathy, autosomal recessive Sanger Sequencing of the HINT1 gene
Neuronal Ceroid Lipofuscinosis Sanger Sequencing of the TPP1 gene
Neuronal migration defects NGS of 45 gene panel: ADGRG1, AKT3, ALX4, ATP7A, ARX, CASK, CDK16, CDON, CHMP1A, EMX2, DKK1, DCX, DYNC1H1, EXOSC3, FLNA, GLI2, HCCS, HEPACAM, IGBP1, LAMB1, L1CAM, PAFAH1B1, PTCH1, OCLN, PIK3R2, RARS2, RELN, RTTN, SEPSECS, SHH, SIX3, TGIF1, TSEN2, TSEN34, TSEN54, TUBA8, TUBB2B, TUBB3, TUBA1A, VRK1, YWHAE, ZIC1, ZIC2, ZIC3, ZIC4
Neuronopathy, distal hereditary motor, type VI NGS and Sanger Sequencing of the IGHMBP2 gene
Neuropathy Hereditary sensory and autonomic type III Sequencing of the IKBKAP gene
Neuropathy, Ataxia and Retinitis Pigmentosa Detection of mutations 8993T>G and 8993T>C in the mitochondrial gene MTATP6
Neuropathy, distal hereditary motor, type V Sanger Sequencing of the GARS gene
Neuropathy, distal hereditary motor, type VIIB Next Generation Sequencing and Sanger Sequencing of the DCTN1 gene
Neuropathy, hereditary sensory and autonomic, type IA Sanger Sequencing of the SPTLC1 gene
Neuropathy, hereditary sensory and autonomic, type II NGS and Sanger Sequencing of the WNK1 gene
Neuropathy, Hereditary Sensory and Autonomic, type V Sequencing of the NGF gene
Neuropathy, hereditary sensory, type IIC NGS and Sanger Sequencing of the KIF1A gene
Neuropathy, Hereditary, with liability to Pressure Palsies (HNPP) Sanger Sequencing of the PMP22 gene
Neuropathy, Hereditary, with liability to Pressure Palsies (HNPP) Detection of deletion in the PMP22 gene by MLPA
Neuropathy, distal hereditary motor, autosomal dominant NGS of 11 gene panel: BSCL2, CTDP1, DCTN1, FBXO38, GARS, HSPB1, HSPB3, HSPB8, REEP1, SCP2, SLC5A7
Neuropathy, hereditary sensory NGS of 5 gene panel: ATL1, ATL3, CCT5, DNMT1, KIF1A
Neuropathy, hereditary sensory and autonomic and Insensitivity to pain, congenital, with anhidrosis NGS of 9 gene panel: DST, FAM134B, IKBKAP, NGF, NTRK1, SCN11A, SPTLC1, SPTLC2, WNK1
Neutropenia, severe congenital , autosomal dominant type 1 Sanger Sequencing of the ELANE gene
Neutropenia, severe congenital, autosomal recessive type 3 (kostmann d Sanger Sequencing of HAX1 gene
Neutropenia, severe congenital, X-linked Sanger sequencing of the WAS gene
Neutropenia, severe congenital NGS of 6 gene panel: ELANE, G6PC3, GFI1, JAGN1, VPS45, WAS and Sanger sequencing of the HAX1 gene
Nevo syndrome Sanger Sequencing of the PLOD1 gene
Nijmegen breakage syndrome Sanger Sequencing of the NBN gene
Nijmegen breakage syndrome-like disorder Sanger sequencing of the RAD50 gene
Nonaka myopathy Sanger sequencing of the GNE gene
Nonobstructive Hypertrophic Cardiomyopathy Next Generation Sequencing of 13 gene panel: ACTC1, GLA, LAMP2, LDB3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1
Nonobstructive Hypertrophic Cardiomyopathy Next Generation Sequencing of 13 gene panel:ACTC1, GLA, LAMP2,LDB3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, and detections of deletions and/or duplications in the GLA, MYBPC3 and TNNT2 genes by MLPA
Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant Sanger Sequencing of the GJB3 gene
Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant Next Generation Sequencing and Sanger Sequencing of the MYH9 gene
Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant 8/12 Next Generation Sequencing and Sanger Sequencing of the TECTA gene
Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant type 13 Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene
Nonsyndromic Mitochondrial Hearing Loss and Deafness Detection of the m.1555A>G mutation in the mitochondrial gene MTRNR1
Noonan 1 syndrome Sanger Sequencing of the PTPN11 gene
Noonan 1 syndrome Sanger Seq.of exons 2,3,8,9 and 13 of the PTPN11 gene mutations
Noonan 1 syndrome Sanger Sequencing of exons 7, 14 and 17 of the RAF1 gene
Noonan 1 syndrome Sanger sequencing of the RAF1 gene
Noonan syndrome 4 Sanger Seq.of the 7, 11 and 17 exons of the SOS1 gene
Noonan syndrome 4 Sequencing of the SOS1 gene
Noonan Syndrome 8 Sanger sequencing of the RIT1 gene
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Sanger sequencing of the CBL gene
Noonan, Legius & Noonan-like Syndromes NGS of 10 gene panel: BRAF, CBL, KRAS, MAP2K1, NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1
Norrie disease Sanger Sequencing of the NDP gene
Norrie disease Detection of deletions and/or duplications in NDP gene by MLPA
Nuclear mitochondrial myopathy NGS of 48 gene panel: AGK, AIFM1, CHKB, COX15, C10orf2, CPT2, DLAT, DNAJC19, FBXL4, FOXRED1, GFER, ISCU, LIAS, MICU1, MPC1, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFV1, NDUFV2, NUBPL, OPA1, PC, PDHA1, PDHB, PDP1, POLG, POLG2, PUS1, RRM2B, SCO2, SLC25A4, SUCLA2, SUCLG1, TK2, TYMP, YARS2
Obesity, adrenal insufficiency, and red hair due to POMC deficiency Sanger sequencing of the POMC gene
Obesity, morbid, due to leptin receptor deficiency Sanger sequencing of the LEPR gene
Occipital horn syndrome NGS and Sanger Sequencing of the ATP7A gene
Ocular Albinism type 1 Sanger sequencing of the GPR143 gene
Ocular Albinism type 1 Detection of large deletions and/or duplications in the GPR143 gene by MLPA
Ocular Pharyngeal Muscular Dystrophy Detection of CGC expansion in the PABPN1 gene
Opitz G/BBB Syndrome, X-Linked Sanger sequencing of MID1 gene
Opitz G/BBB Syndrome, X-Linked Detection of large deletions and/or duplications in MID1 gene by MLPA
Opitz-Kaveggia syndrome Mutation screening in exons 20, 21 and 22 of the MED12 gene
Optic atrophy 1 Next Generation Sequencing and Sanger Sequencing of the OPA1 gene
Optic Atrophy, autosomal dominant NGS of 3 gene panel: OPA1, OPA3, TMEM126A
Optic nerve hypoplasia and abnormalities of the central nervous system Sanger Sequencing of the SOX2 gene
Optic nerve hypoplasia and abnormalities of the central nervous system Large deletions and duplications detection in the SOX2 gene by MLPA
Oral-Facial-Digital Syndrome Type I Sanger Sequencing of the OFD1 gene
Ornithine transcarbamylase deficiency Sanger Sequencing of the OTC gene
Ossification of posterior longitudinal ligament of spine NGS and Sanger Sequencing of the ENPP1 gene
Osteoarthritis with mild chondrodysplasia NGS and Sanger Sequencing of the COL2A1 gene
Osteoarthritis with mild chondrodysplasia Large deletions and duplications in the COL2A1 gene by MLPA
Osteochondritis dissecans, short stature, and early-onset osteoarthrit NGS and Sanger sequencing of ACAN gene
Osteogenesis Imperfecta Detection of large deletions and/or duplications in the COL1A1 gene by MLPA
Osteogenesis Imperfecta Detection of large deletions and/or duplications in the COL1A2 gene by MLPA
Osteogenesis Imperfecta NGS and Sanger Sequencing of the COL1A1 gene
Osteogenesis imperfecta AD, Caffey disease, Osteogenesis imperfecta with unusual skeletal lesions Next Generation Sequencing of 3 gene panel: ANO5, COL1A1, COL1A2
Osteogenesis Imperfecta and decreased bone density group: Osteogenesis imperfecta AD and AR (EMQN) Next Generation Sequencing of 10 gene panel: COL1A1, COL1A2, CRTAP, FKBP10, P3H1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7.
Osteogenesis imperfecta AR Next Generation Sequencing of 8 gene panel: CRTAP, FKBP10, P3H1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7.
Osteogenesis Imperfecta, type II NGS and Sanger Sequencing of the COL1A2 gene
Osteogenesis Imperfecta, type II Next Generation Sequencing of 2 gene panel: COL1A1, COL1A2
Osteogenesis Imperfecta, type II NGS and Sanger Sequencing of the COL1A1 gene
Osteogenesis Imperfecta, type III NGS and Sanger Sequencing of the COL1A2 gene
Osteogenesis Imperfecta, type III Next Generation Sequencing of 2 gene panel: COL1A1, COL1A2
Osteogenesis Imperfecta, type III NGS and Sanger Sequencing of the COL1A1 gene
Osteogenesis Imperfecta, type IV NGS and Sanger Sequencing of the COL1A2 gene
Osteogenesis Imperfecta, type IV Next Generation Sequencing of 2 gene panel: COL1A1, COL1A2
Osteogenesis Imperfecta, type IV NGS and Sanger Sequencing of the COL1A1 gene
Osteogenesis imperfecta, type V Sanger Sequencing of the IFITM5 gene
Osteogenesis imperfecta, type VIII Sanger Sequencing of the P3H1 gene
Osteogenesis imperfecta, type XV Sanger sequencing of the WNT1 gene
Osteoglophonic dysplasia Sanger sequencing of the FGFR1 gene
Osteolysis group: Familial expansile osteolysis, Torg-Winchester syndrome, Nasu-Hakola disease, Nestor-Guillermo progeria syndrome, Acrosteolysis neurogenic, Paget disease, Next Generation Sequencing of 7 gene panel: BANF1, MMP2, SQSTM1, TNFRSF11A, TREM2, TYROBP,WNK1
Osteopetrosis autosomal dominant 2, OPTA2 Sanger Sequencing of the CLCN7 gene
Osteopetrosis, autosomal dominant 1 Sanger Sequencing of the LRP5 gene
Osteopetrosis, autosomal recessive 1 Sanger Sequencing of the TCIRG1 gene
Osteoporosis-pseudoglioma syndrome Sanger Sequencing of the LRP5 gene
Osteoporosis-pseudoglioma syndrome, Geroderma osteodysplasticum Next Generation Sequencing of 2 gene panel: GORAB, LRP5
Osteosclerosis Sanger Sequencing of the LRP5 gene
Otopalatodigital syndrome, type I Sanger Seq.of the exons 3,4 and 5 of the FLNA gene
Otopalatodigital syndrome, type I Next Generation Sequencing and Sanger Sequencing of the FLNA gene
Otopalatodigital syndrome, type II Next Generation Sequencing and Sanger Sequencing of the FLNA gene
Otospondylomegaepiphyseal dysplasia Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene
Ovarian C ncer Sanger sequencing of the RAD51D gene
Ovarioleukodystrophy Sanger Sequencing of the EIF2B5 gene
Pachyonychia congenita, Jackson-Lawler type Sanger Sequencing of KRT17 gene
Pachyonychia congenita, type 1 Sequencing of the KRT16 gene
Pallister-Hall syndrome Sanger Sequencing of the GLI3 gene
Pancreatic C ncer NGS of 3 gene panel: ATM, BRCA2, PALB2
Pancreatic Cancer (Sd Peutz Jeghers, Pancreatitis) NGS of 9 gene panel: APC, BRCA1, BRCA2, MLH1, CDKN2A, MSH2, PALB2,STK11, TP53
Pancreatic Cancer and Peutz Jeghers syndrome NGS of 10 gene panel: APC, ATM, BRCA1, BRCA2, MLH1, CDKN2A, MSH2, PALB2, STK11, TP53
Panhypopituitarism, X-linked Sanger Sequencing of the SOX3 gene
Paragangliomas Detection of deletions and/or duplications in the SDHB, SDHC, SDHD, SDHA, SDHAF2 genes by MLPA
Paragangliomas 2 Sanger sequencing of the SDHAF2 gene
Paramyotonia Congenita of Von Eulenburg Sanger sequencing of the SCN4A gene
Parastremmatic dwarfism Sanger Sequencing of the TRPV4 gene
Parathyroid Carcinoma Sanger Sequencing of the CDC73 (HRPT2) gene
Parkinson 8 Disease Next Generation Sequencing and Sanger Sequencing of the LRRK2 gene
Parkinson Disease NGS of 4 genes: LRRK2, PARK2, PARK7, PINK1
Parkinson disease 1 Sanger Sequencing of the SNCA gene
Parkinson disease 1 Detection of large deletions and/or duplications in the SNCA gene by MLPA
Parkinson disease 11 NGS and Sanger Sequencing of the GIGYF2 gene
Parkinson disease 14 Sanger Sequencing of the PLA2G6 gene
Parkinson disease 14 Large deletion and duplication detection in the PLA2G6 by MLPA
Parkinson disease 17 Sanger Sequencing of the VPS35 gene
Parkinson disease 18 NGS and Sanger Sequencing of the EIF4G1 gene
Parkinson Disease 2 Sanger Sequencing of the PARK2 gene
Parkinson Disease 2 Detection of large deletions and/or duplications in the PARK2 gene by MLPA
Parkinson disease 4 Sanger Sequencing of the SNCA gene
Parkinson disease 4 Detection of large deletions and/or duplications in the SNCA gene by MLPA
Parkinson Disease 6 Detection of the G309D mutation in the PINK1 gene
Parkinson disease 6, early onset Sanger sequencing of the PINK1 gene
Parkinson Disease 7 Sanger sequencing of the PARK7 gene
Parkinson Disease 8 Detection of mutations G2019S and R1441G in the gene LRRK2
Parkinson disease 9 NGS and Sanger Sequencing of the ATP13A2 gene
Parkinson disease with Dementia, frontotemporal, Pick disease, Supranuclear palsy progressive and Dementia, Lewy body. Next Generation Sequencing of 2 gene panel: MAPT, SNCB
Parkinson disease early onset, autosomal recessive NGS of 8 gene panel: ATP13A2, DNAJC6, FBXO7, PARK2, PARK7, PINK1, PLA2G6, SYNJ1
Parkinson disease, autosomal dominant. NGS of 9 gene panel: EIF4G1, GBA, GIGYF2, HTRA2, LRRK2, SNCA, SNCAIP, UCHL1, VPS35
Parkinson disease, Parkinsonism NGS of 20gene panel: ATP13A2, ATP1A3, ATP6AP2, DNAJC6, EIF4G1, FBXO7, GBA, GIGYF2, HTRA2, LRRK2, PARK2, PARK7, PINK1, PLA2G6, POLG, SNCA, SNCAIP, SYNJ1, UCHL1, VPS35
Paroxysmal extreme pain disorder Sanger Sequencing of the SCN9A gene
Partington Syndrome Sanger Sequencing of the ARX gene
Partington Syndrome Duplication detection in exon 2 of the ARX gene
Patellar dysostoses: Nail-patella syndrome, Small patella syndrome, Small patella - like syndrome with clubfoot Next Generation Sequencing of 3 gene panel: LMX1B, PITX1, TBX4
Pelger-H et anomaly Sanger Sequencing of the LBR gene
Pelizaeus-Merzbacher disease (PMD) Detection of large deletions and/or duplications in the PLP1 gene by MLPA
Pelizaeus-Merzbacher disease (PMD) Sanger Sequencing of the PLP1 gene
Pendred Syndrome Detection of the most frequent mutations in the SLC26A4
Pendred Syndrome Sanger Sequencing of the SLC26A4 gene
Pendred Syndrome NGS of 3 gene panel: SLC26A4, KCNJ10, FOXI1
Pendred Syndrome Detection of deletions and/or duplications in SLC26A4 gene by MLPA
Peripheral neuropathy, myopathy, hoarseness, and hearing loss NGS and Sanger Sequencing of the MYH14 gene
Perlecan group: Dyssegmental dysplasia, Silverman-Handmaker type, Rolland-Desbuquois type, Schwartz-Jampel syndrome, type 1 NGS and Sanger Sequencing of the HSPG2 gene
Peroxisomal acyl-CoA oxidase deficiency Sanger Sequencing of ACOX1 gene
Peroxisome biogenesis disorder (Zellweger), Refsum disease, infantile, Adrenoleukodystrophy, Alagille syndrome. NGS of 17 gene panel: ABCD1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, JAG1, NOTCH2.
Peroxisome biogenesis disorder 1A (Zellweger) Sanger sequencing of the PEX1 gene
Peroxisome biogenesis disorder, Adrenoleukodystrophy, Refsum disease neonatal e infantil, Rhizomelic chondrodysplasia punctata 1 NGS of 15 gene panel: ABCD1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7.
Perry syndrome Next Generation Sequencing and Sanger Sequencing of the DCTN1 gene
Persistent Mullerian Duct Syndrome type II Detection of mutation c.6331del27 in the AMHR2 gene
Peters Anomaly Sanger Sequencing of the PAX6 gene
Peters-plus syndrome Sanger Sequencing of the B3GALTL gene
Peutz-Jeghers syndrome Sanger Sequencing of the STK11 gene
Peutz-Jeghers syndrome Detection of large deletions and/or duplications in the STK11 gene by MLPA
Pfeiffer Syndrome Sanger Sequencing of FGFR2 gene
Pfeiffer Syndrome Sanger sequencing of the FGFR1 gene
Pharmacogenetics in Oncology NGS of 142 gene panel: ADA, ADORA2A, AKT1, AMPD1, AREG, ATIC, BRAF, CBR1, CBR3, CDA, CDKN1A, CES1, CES2, CMPK1, CRK, CYP1B1, CYP2C8, CYP3A4, CYP3A5, DAPK1, DCK, DCTD, DHFR, DPYD, DPYS, DTYMK, DUT, EGF, EGFR, EPHA5, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EREG, FANCD2, FCGR2A, FCGR3A, FGD4, FPGS, FRS2, FZD3, GART, GGH, GRB2, GSTM1, GSTP1, GSTT1, HGF, HIF1A, IL17F, IL6, ITGAV, ITPA, KDR, KRAS, LRIG1, LRIG2, LRIG3, MAP2, MAP2K4, MAP2K6, MAP4, MAPK11, MAPK3, MAPT, MET, MLH1, MSH2, MSH6, MTHFR, MTOR, MTR, MTRR, NME1, NR1I2, NRAS, NT5C, NT5C2, PDE4B, PGF, PIK3C2A, PIK3C2B, PMS2, POLH, POLM, PRKCE, PTEN, PTGS2, RALBP1, RRM1,SLC19A1, SLC22A16, SLC28A1, SLC28A2, SLC28A3, SLC29A1, SLC31A1, SLCO1B1, SLCO1B3, SPARC, TDP1, TGFA, TGFB1, TOP1,TOP2A, TUBB1, TUBB2A, TUBB3, TUBB6, TYMP, TYMS, UCK2, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A6, UGT1A8, UGT1A9, UGT2B7, UMPS, UNG, VEGFA, VEGFB, XPA, XRCC1, XRCC2, XRCC3, ADAMTSL3, MYBBP1A, NEDD4, NOTCH4, PACS2, POU2F1, SOS1, TP53, TP63, UPF2, USP15, REV3L
Phelan-McDermid syndrome Detection of deletions in 22q13.3 by MLPA
Phenylketonuria Sanger Sequencing of the PAH gene
Pheochromocytoma NGS and Sanger Sequencing of the KIF1B gene
Pheochromocytoma Detection of deletions and/or duplications in SDHB gene by MLPA
Pheochromocytoma NGS of 7 gene panel: KIF1B, MAX, RET, SDHAF2 ,SDHB, TMEM127, VHL
Pheochromocytoma Detection of deletions and/or duplications in the SDHB, SDHC, SDHD, SDHA, SDHAF2 genes by MLPA
Pheochromocytoma / Paraganglioma NGS of 7 gene panel: EPAS1, KIF1B, MAX, MDH2, RET, TMEM127, VHL and Sanger sequencing of the SDHA, SDHB, SDHC, SDHD genes
Phosphoglycerate kinase 1 deficiency Sanger Sequencing of the PGK1 gene
Phospholipid disorders: PHARC, MNGIE TYPE, Sjogren-Larsson, Neurodegeneration with brain iron accumulation, Spastic paraplegia, GM3 synthase deficiency, HSAN1, Myoglobinuria, Barth, Muscular dystrophy, congenital, megaconia NGS of 14 gene panel: ABHD12, ABHD5, AGK, CHKB, ELOVL4, FA2H, LPIN1, PANK2, PLA2G6, PNPLA6, ST3GAL5, SPTLC1, SPTLC2, TAZ
Pitt-Hopkins syndrome Sanger Sequencing of the TCF4 gene
Pitt-Hopkins syndrome Detection of deletions and/or duplications in TCF4 gene by MLPA
Pituitary hormone deficiency, combined, 1 Sanger Sequencing of the POU1F1 gene
Pituitary hormone deficiency, combined, 2 Sanger Sequencing of the PROP1 gene
Pituitary hormone deficiency, combined, 2 Detection of deletions and/or duplications in PROP1 gene by MLPA.
Pituitary hormone deficiency, combined, 3 Sanger sequencing of the LHX3 gene
Pituitary hormone deficiency, combined, 3 Detection of large deletions and/or duplications in the LHX3 gene by MLPA
Pituitary hormone deficiency, combined, 4 Sanger sequencing of the LHX4 gene
Pituitary hormone deficiency, combined, 5 Sanger Sequencing of the HESX1 gene
Pituitary hormone deficiency, combined, 5 Detection of deletions and/or duplications in HESX1 gene by MLPA
Plasminogen activator inhibitor-1 deficiency Genotyping of the 4G/5G polymorphism in the 5'UTR region of the SERPINE1 gene
Plasminogen Deficiency type 1 Sanger Sequencing of the PLG gene
Platyspondylic skeletal dysplasia, Torrance type NGS and Sanger Sequencing of the COL2A1 gene
Platyspondylic skeletal dysplasia, Torrance type Large deletions and duplications in the COL2A1 gene by MLPA
Pleuropulmonary blastoma family tumor susceptibility syndrome Sanger sequencing of the DICER1 gene
Poikiloderma congenital, Weary type Sanger Sequencing of the FERMT1 gene
Polycystic Kidney Disease, AD, AR NGS of 3 gene panel: PKD1, PKD2, PKHD1.
Polycystic Kidney Disease, Autosomal Dominant Sanger Sequencing of the PKD1 gene
Polycystic Kidney Disease, Autosomal Dominant Sanger Sequencing of the PKD2 gene
Polycystic Kidney Disease, Autosomal Dominant Detection of large deletions and/or duplications in PKD1 gene by MLPA
Polycystic Kidney Disease, Autosomal Dominant Detection of large deletions and/or duplications in PKD2 gene by MLPA
Polycystic Kidney Disease, Autosomal Dominant NGS of 2 gene panel: PKD1, PKD2.
Polycystic Kidney Disease, Autosomal Dominant NGS and Sanger sequencing of the PKD1 gene
Polycystic Kidney Disease, autosomal recessive Detection of large deletions and/or duplications in PKHD1 gene
Polycystic Kidney Disease, autosomal recessive NGS and Sanger sequencing of PKHD1 gene
Polycystic Liver Disease Sanger Sequencing of the PRKCSH gene
Polycystic Liver Disease Sanger Sequencing of the SEC63 gene
Polydactyly, postaxial, types A1 and B Sanger Sequencing of the GLI3 gene
Polydactyly, preaxial type II Sanger Sequencing of the LMBR1 gene
Polydactyly, preaxial, type IV Sanger Sequencing of the GLI3 gene
Polydactyly-Syndactyly-Triphalangism group: Greig cephalopolysyndactyly; Pallister-Hall syndromes, Cenani-Lenz syndactyly, Preaxial polydactyly types 2, 4; Polydactyly, postaxial, types A1 and B; Synpolydactyly II, Syndactyl Next Generation Sequencing of 6 gene panel: GLI3, HOXD10, HOXD13, LMBR1, LRP4, PITX1.
Polyglucosan body myopathy 2 Sanger sequencing of the GYG1 gene
Polymicrogiria Sanger Sequencing of the TUBB2B gene
Polymicrogiria Sanger Sequencing of the TUBA8 gene
Polymicrogiria Sanger Sequencing of the GPR56 gene
Pontocerebellar hypoplasia; Dandy-Walker malformation; Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS of 12 gene panel: CASK, CHMP1A, CDK16, EXOSC3, RARS2, SEPSECS, TSEN2, TSEN34, TSEN54, VRK1, ZIC1, ZIC4
Popliteal pterygium syndrome 1 Sanger sequencing of the IRF6 gene
Porencephaly 1 NGS and Sanger Sequencing of the COL4A1 gene
Porphyria Variegata Sanger Sequencing of the PPOX gene
Porphyria, Acute Intermittent Sanger Sequencing of the HMBS gene
Porphyria, Acute Intermittent Detection of deletions and/or duplications in HMBS gene by MLPA
Prader-Willi syndrome Detection of large deletions and/or duplications in PWS/AS region by MLPA
Prader-Willi syndrome Uniparental disomy detection of chromosome 15
Prader-Willi syndrome Methylation analysis in the PWS/AS genomic region
Prader-Willi syndrome Molecular study using MS-MLPA
Prader-Willi syndrome NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2
Prader-Willi syndrome NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A
Precocious puberty central 2 Sanger sequencing of the MKRN3 gene
Preconception Risk Detection Preconception screening panel (CFTR -FRAXA)
Prenatal Diagnosis array Study of prenatal maternal contamination
Prenatal Diagnosis array Array CytoScan Optima (Prenatal)
Primary Ciliary Dyskinesia 1 Sequencing of the DNAI1 gene
Primary Ciliary Dyskinesia 3 Sanger Seq.of exons 17,26-28,32-34,36,41,48-50,53,62,63,67,76-78 of the DNAH5 gene
Primary Congenital Glaucoma Sanger Sequencing of the CYP1B1 gene
Primary lateral sclerosis, juvenile NGS and Sanger Sequencing of the ALS2 gene
Primary Microcephaly, autosomal recessive Detection of the S25X mutation in the MCPH1 gene
Primary Microcephaly, autosomal recessive Sanger sequencing of the MCPH1 gene
Primary Microcephaly, autosomal recessive Sanger Sequencing of the ASPM gene (MCPH5)
Progressive external ophthalmoplegia, autosomal dominant NGS and Sanger Sequencing of the POLG gene
Progressive external ophthalmoplegia, autosomal dominant NGS of 7 gene panel: C10ORF2, OPA1, POLG, POLG2, RRM2B, SLC25A4, TYMP
Progressive external ophthalmoplegia, autosomal recessive NGS and Sanger Sequencing of the POLG gene
Progressive familial heart block, type IB NGS and Sanger Sequencing of the TRPM4 gene
Progressive External Ophthalmoplegia (PEO) and Optic Atrophy NGS of 23 gene panel: ACO2, AUH, C10ORF2, DNA2, C12ORF65, CISD2, MFN2, MTPAP, NDUFS1, OPA1, OPA3, POLG, POLG2, REEP1, RRM2B, SLC19A3, SLC25A4, SPG7, TIMM8A, TK2, TMEM126A, TYMP, WFS1
Prostate Cancer, hereditary NGS of 3 gene panel: BRCA2, CHEK2, HOXB13.
Prostate Cancer, familial NGS of 7 gene panel: ATM, BRCA1, BRCA2, CHEK2, HOXB13, MSR1, PALB2
Proteus syndrome, somatic Sanger Sequencing of the AKT1 gene
Protoporphyria, erythropoietic, X-linked Sanger sequencing of the ALAS2 gene
Proud syndrome Sanger Sequencing of the ARX gene
Pseudoachondroplasia Sanger Sequencing of the COMP gene
Pseudohypoaldosteronism Type 1B, Autosomal Recessive Sanger sequencing of the SCNN1A gene
Pseudohypoaldosteronism type I, autosomal dominant Sanger Sequencing of the NR3C2 gene
Pseudohypoaldosteronism, type IIC NGS and Sanger Sequencing of the WNK1 gene
Pseudohypoparathyroidism Type IA Sanger Sequencing of the GNAS gene
Pseudohypoparathyroidism Type IA Methylation analysis and detection of deletions and/or duplications in 20q13.32 GNAS region by MLPA
Pseudoxanthoma Elasticum Sanger Seq.of exons 24 and 28 and deletions detection of exons 23-29 of the ABCC6 gene
Pseudoxanthoma Elasticum Sanger Seq. of exons 21, 24, 27, 28, 29 and deletions detection of exons 23-29 of the ABCC6 gene
Pseudoxanthoma Elasticum Sanger Seq.and deletions detection of exons 23-29 of the ABCC6 gene
Pseudoxanthoma Elasticum Detection of large deletions and/or duplications ABCC6 gene by MLPA
Pseudoxanthoma Elasticum NGS and Sanger sequencing of the ABCC6 gene
Pulmonary Fibrosis Idiopathic Sanger Seq. and detection of large deletions or duplications in the TERT gene by MLPA
Pulmonary hypertension, familial primary, 1 Sanger Sequencing of the BMPR2 gene
Pulmonary hypertension, familial primary, 1 Detection of large deletions and/or duplications in BMPR21 gene by MLPA
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne Sanger Sequencing of the PSTPIP1 gene
Pyruvate carboxylase deficiency Sanger sequencing of the PC gene
Pyruvate kinase deficiency Sanger sequencing of the PKLR gene
Pyruvate dehydrogenase deficiency and Pyruvate carboxylase deficiency NGS of 8 gene panel: DLAT, LIAS, MPC1, PC, PDHA1, PDHB, PDHX, PDP1
RAPADILINO syndrome NGS and Sanger Sequencing of the RECQL4 gene
RASopathies syndromes Next Generation Sequencing of 12 gene panel: BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2 NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1
Rearrangements genetic diagnosis Clinical Interpretation of arrays
Recesive Multiple Epiphyseal Dysplasia Mutations screening of p.Arg279Trp, c.-26+2T>C and p.Cys653Ser in the SLC26A2 gene
Renal Cancer (clear cell renal cancer, papillary renal cancer, Birt-Hogg-Dube syndrome) NGS of 4 gene panel: VHL, MET, FLCN, SDHB
Renal cell carcinoma, papillary, 1 NGS and Sanger Sequencing of the MET gene
Renal cell carcinoma, papillary, 1 FISH amplification MET (7q31.2)
Renal Glucosuria Sanger Sequencing of the SLC5A2 gene
Renal Tubular Acidosis, Distal (AD) Sequencing of the SLC4A1 gene
Renal Cancer (clear cell renal cancer, papillary renal cancer, Birt-Hogg-Dube syndrome) and renal hamartomas NGS of 5 gene panel: FH, VHL, MET, FLCN, DIS3L2 and Sanger sequencing of the SDHB gene
Retinitis Pigmentosa Sanger Sequencing of the RPE65 gene
Retinitis Pigmentosa Sanger Sequencing of the PRPH2 gene
Retinitis Pigmentosa Sanger Sequencing of the RP2 gene
Retinitis Pigmentosa Sanger Sequencing of the ABCA4 gene
Retinitis Pigmentosa Sanger Sequencing of the RPGR gene
Retinitis Pigmentosa Detection of deletions and/or duplications in USH2A gene by MLPA
Retinitis pigmentosa (autosomal dominant) Sanger Sequencing of the RHO gene
Retinitis pigmentosa (autosomal dominant) Sanger Sequencing of the RP1 gene
Retinitis pigmentosa (autosomal dominant) Mutation panel in genes CA4, FSCN2, IMPDH1, NRL, PRPF3, PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX, TOPORS and PNR
Retinitis pigmentosa (autosomal dominant) NGS of 26 gene panel: AIPL1, BEST1, CA4, CRX, FSCN2, GUCA1B, IMPDH1, KLHL7, NR2E3, NRL, PRKCG, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RDH12, RGR, RHO, ROM1, RP1, RP9, RPE65, SEMA4A, SNRNP200, TOPORS
Retinitis pigmentosa (X-linked) NGS of 3 gene panel: OFD1, RP2, RPGR.
Retinoblastoma Sanger Sequencing of the RB1 gene
Retinoblastoma Detection of large deletions and/or duplications in the RB1 gene by MLPA
Retinoblastoma NGS of the RB1 gene
Rett syndrome Sanger Sequencing of the MECP2 gene
Rett syndrome Detection of large deletions and/or duplications in the MECP2 gene by MLPA
Rett syndrome Sanger Sequencing of the CDKL5 gene
Rett syndrome Detection of large deletions and/or duplications in FOXG1 gene by MLPA
Rett syndrome Sanger Sequencing of the FOXG1 gene
Rett syndrome NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2
Rett syndrome NGS of 8 gene panel: CDKL5, FOXG1, GABRA5, GABRB3, GABRG3, MECP2, MBD5, UBE3A
Rett syndrome Sanger Sequencing of the NTNG1 gene
Rhizomelic chondrodysplasia punctata, type 3 Sanger sequencing of the AGPS gene
Rhizomelic chondrodysplasia punctata NGS of 4 gene panel: AGPS, GNPAT, PEX5, PEX7.
Rigid spine muscular dystrophy Sanger Sequencing of the SEPN1 gene
Robinow; Aarskog-Scott; Opitz GBBB; KBG, syndromes NGS of 5 gene panel: ANKRD11, FGD1, MID1, ROR2, WNT5A
Rolandic epilepsy, mental retardation, and speech dyspraxia Sanger Sequencing of the SRPX2 gene
Rothmund-Thompson syndrome NGS and Sanger Sequencing of the RECQL4 gene
Roussy-Levy syndrome Next Generation Sequencing of 2 gene panel: MPZ, PMP22
Rubinstein-Taybi Syndrome Sanger Seq. and detection of large deletions and/or duplications in the CREBBP gene by MLPA
Rubinstein-Taybi Syndrome Sanger Sequencing of the CREBBP gene
Russell-Silver, Syndrome Uniparental disomy detection of chromosome 7
Russell-Silver, Syndrome Methylation H19
Russell-Silver, Syndrome Methylation analysis in the 11p15 region, H19, IGF2, CDKN1C, KCNQ1 by MLPA
Saethre-Chotzen syndrome Sanger Sequencing of the TWIST1 gene
Saethre-Chotzen syndrome Detection of large deletions and/or duplications in the TWIST1 gene by MLPA
Sarcoglycanopathies NGS of 4 genes: SGCA, SGCB, SGCG, SGCD
Sarcoma, familial NGS of 2 gene panel: DICER1, POT1.
Scapuloperoneal spinal muscular atrophy Sanger Sequencing of the TRPV4 gene
Scapuloperoneal syndrome, myopathic type Next Generation Sequencing and Sanger Sequencing of the MYH7 gene
Schinzel-Giedion midface retraction syndrome Sequencing of exon 6 of the SETBP1 gene
Schizencephaly Sanger Sequencing of the EMX2 gene
Schizencephaly Sanger Sequencing of the SHH and SIX3 genes
Schizencephaly NGS of 9 gene panel: CDON, EMX2, DKK1, GLI2, PTCH1, SHH, SIX3, TGIF1, ZIC2
Schwartz-Jampel syndrome, type 1 NGS and Sanger Sequencing of the HSPG2 gene
Sclerosteosis 2 NGS and Sanger Sequencing of the LRP4 gene
Sebastian syndrome Next Generation Sequencing and Sanger Sequencing of the MYH9 gene
Seckel syndrome NGS of 5 gene panel: ATR, CENPJ, CEP152, NIN, RBBP8
Seckel syndrome 1 NGS and Sanger Sequencing of the ATR gene
SED congenita NGS and Sanger Sequencing of the COL2A1 gene
SED congenita Large deletions and duplications in the COL2A1 gene by MLPA
Segawa syndrome Sanger Sequencing of the TH gene
Segawa syndrome Detection of large deletions and/or duplications in the TH gene by MLPA
Seizures, benign familial infantile, 2 Sanger Sequencing of the SCN2A gene
Seizures, benign familial infantile, 3 Sanger Sequencing of the PRRT2 gene
Seizures, benign familial neonatal and infantile NGS of 4 gene panel: KCNQ2, KCNQ3, SCN2A, PRRT2
Senior-Loken syndrome 6 NGS and Sanger Sequencing in the CEP290 gene
Senior-Loken syndrome-1 Sanger sequencing of the NPHP1 gene
Septooptic Dysplasia Sanger Sequencing of the HESX1 gene
Septooptic Dysplasia Detection of deletions and/or duplications in HESX1 gene by MLPA
Severe combined immunodeficiency, T cell-negative, B-cell/natural kill NGS and Sanger Sequencing of the PTPRC gene
Severe polymalformative disorders: Bohring-Opitz syndrome AD, Rothmund-Thomson syndrome, Microcephalic osteodysplastic primordial dwarfism, type I, Microphthalmia, syndromic 3. Next Generation Sequencing of 4 gene panel: ASXL1, RECQL4, RNU4ATAC, SOX2
Severe spondylodysplastic dysplasias: Chondrodysplasia, lethal neonatal, with snail-like pelvis o Schneckenbecken dysplasia, Achondrogenesis 1A , Achondrogenesis 2, Platyspondylic dysplasia, Torrance type, Fibrochondrogenesi Next Generation Sequencing of 6 gene panel: COL11A1, COL2A1, SLC26A2, SLC35D1, TRIP11, TRPV4
Sexing Amelogenin test (sex determination)
Short QT Syndrome Detection of large deletions and duplications in the KCNQ1 and KCNH2 by MLPA
Short QT Syndrome NGS of 8 gene panel: CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1
Short QT Syndrome NGS of 8 gene panel: CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1 and detection of deletions/duplications in genes KCNQ1, KCNH2 by MLPA
Short QT Syndrome Sanger Sequencing of the KCNQ1 gene
Short QT syndrome-1 Sanger Sequencing of the KCNH2 gene
Short rib-polydactyly syndrome, type II NGS and Sanger Sequencing of the NEK1 gene
Short rib-polydactyly syndrome, type II, digenic NGS and Sanger sequencing of DYNC2H1 gene
Short rib-polydactyly syndrome, type III NGS and Sanger sequencing of DYNC2H1 gene
Short rib-polydactyly syndrome, type V Sanger sequencing of the WDR35 gene
Short stature, idiopathic familial Detection of large deletions and/or duplications in SHOX gene by MLPA
Short stature, idiopathic familial Sanger Sequencing of the SHOX gene
Short stature related with Pituitary hormone deficiency, combined, Growth hormone deficiency with pituitary anomalies, Laron dwarfism. Next Generation Sequencing of 7 gene panel: GHR, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1
Short-ribs dysplasias (with or without polydactyly) group (SRPS): Chondroectodermal dysplasia (Ellis-van Creveld), SRPS typeS 1/3, (Saldino-Noonan/Verma-Naumoff), II, III, V. Cleft lip/palate with polydactyly, branchial arch Next Generation Sequencing of 7 gene panel: DYNC2H1, EVC, EVC2, GLI2, IFT80, NEK1, WDR35.
Shprintzen-Goldberg syndrome Sanger Sequencing of the SKI gene
Shwachman-Diamond syndrome Sanger Seq.of complementary DNA corresponding to messenger RNA from the SDBS gene.
Sialuria Sanger sequencing of the GNE gene
Simple Epidermolysis Bullosa Sanger Sequencing of the KRT5 gene
Simple Epidermolysis Bullosa Sanger Seq.of 1, 5 and 7 exons of the KRT5 gene
Simple Epidermolysis Bullosa Sanger Sequencing of exons 1, 4 and 6 of the KRT14 gene
Simple Epidermolysis Bullosa Sanger Sequencing of the KRT14 gene
Simpson-Golabi-Behmel Syndrome Sanger Seq. and detection of large deletions or duplications in the GPC3 gene by MLPA
Simpson-Golabi-Behmel Syndrome NGS of 8 gene panel: GPC3, GPC4, OFD1, EZH2, NRCAM, NFIX, NSD1, MED12
Sitosterolemia Sanger Sequencing of the ABCG5 gene
Sitosterolemia Sanger Sequencing of the ABCG8 gene
Sjogren-Larsson, Syndrome Sanger Sequencing of ALDH3A2 gene
Skeletal Dysplasias Screening of the 48 most frequent mutations in the FGFR3, COL2A1, CRTAP, P3H, SLC26A2 and SOX9 genes
Skeletal Dysplasias Supplement study prenatal array
Skeletal Dysplasias Cell culture of amniotic fluid and screening of the 50 most frequent mutations in the FGFR3, COL2A1, SLC26A2, CRTAP, P3H1 and SOX9 genes
Skin fragility-woolly hair syndrome NGS and Sanger sequencing of DSP gene
Slender bone dysplasia group: 3-M syndrome 1, 2, Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2; Majewski type) Next Generation Sequencing of 3 gene panel: CUL7, OBSL1, PCNT
Small fiber neuropathy Sanger Sequencing of the SCN9A gene
SMED Strudwick type NGS and Sanger Sequencing of the COL2A1 gene
SMED Strudwick type Large deletions and duplications in the COL2A1 gene by MLPA
Smiht-Magenis Syndrome Sanger Sequencing of exon 3 of the RAI1 gene
Smiht-Magenis Syndrome Sanger Sequencing of the RAI1 gene
Smiht-Magenis Syndrome NGS of 18 gene panel: CDKL5, CHL1, CNTNAP2, CNTN4, EHMT1, FOXG1, GABRA5, GABRB3, GABRG3, MBD5, MECP2, MEF2C, NRXN1, RAI1, SLC9A6, TCF4, UBE3A, ZEB2
Smith-Lemli-Opitz Syndrome Sanger Sequencing of the DHCR7 gene
Smith-McCort dysplasia Sanger Sequencing of the DYM gene
Sotos Syndrome Sanger Sequencing of the NSD1 gene
Sotos Syndrome Detection of large deletions and/or duplications in NSD1 gene by MLPA
Spastic ataxia Charlevoix-Saguenay type Detection of mutations c.6594delT and c.5254C>T in the SACS gene
Spastic paralysis, infantile onset ascending NGS and Sanger Sequencing of the ALS2 gene
Spastic paraplegia 10, autosomal dominant Sanger sequencing of the KIF5A gene
Spastic paraplegia 11, autosomal recessive NGS and Sanger Sequencing of the SPG11 gene
Spastic paraplegia 11, autosomal recessive Detection of large deletions and/or duplications in the SPG11 gene by MLPA
Spastic paraplegia 15, autosomal recessive NGS and Sanger Sequencing of the ZFYVE26 gene
Spastic paraplegia 2, X-linked Sanger Sequencing of the PLP1 gene
Spastic paraplegia 30, autosomal recessive NGS and Sanger Sequencing of the KIF1A gene
Spastic paraplegia 39, autosomal recessive NGS and Sanger Sequencing of the PNPLA6 gene
Spastic Paraplegia 3A Sanger Sequencing of the ATL1
Spastic Paraplegia 3A Detection of large deletions and/or duplications in the ATL1 gene by MLPA
Spastic Paraplegia 3A Detection of large deletions and/or duplications in the SPAST gene by MLPA
SPASTIC PARAPLEGIA 4 Sanger Sequencing of the SPAST
Spastic paraplegia 48, autosomal recessive Sanger Sequencing of the AP5Z1 gene
Spastic paraplegia 8, autosomal dominant Sanger sequencing of the KIAA0196 gene
Spastic paraplegia, autosomal dominant NGS of 14 gene panel: ATL1, BICD2, BSCL2, FLRT1, HSPD1, KIAA0196, KIF5A, NIPA1, REEP1, REEP2, RTN2, SLC33A1, SPAST, ZFYVE27
Spastic paraplegia, autosomal recessive and Troyer, MAST syndromes NGS of 46 gene panel: ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, B4GALNT1, C12orf65, C19orf12, CCT5, CYP2U1, CYP7B1, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2, FA2H, GAD1, GBA2, GJC2, GRID2, KIF1A, KIF1C, LYST, MAG, MARS, NT5C2, PGAP1, PNPLA6, RAB3GAP2, REEP2, SPG11, SPG20, SPG21, SPG7, TECPR2, TFG, USP8, VPS37A, WDR48, ZFR, ZFYVE26
Spastic paraplegia, X-linked. MASA and CRASH syndromes NGS of 3 gene panel: L1CAM, PLP1, SLC16A2
Spastic paraplegias. NGS of 62 gene panel: ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSI, ATL1, B4GALNT1, BICD2, BSCL2, C12orf65, C19orf12, CCT5, CYP2U1, CYP7B1, DDHD1, DDHD2, ENTPD1, ERLIN1, ERLIN2, FA2H, FLRT1, GAD1, GBA2, GJC2, GRID2, HSPD1, KIAA0196, KIF1A, KIF1C, KIF5A, L1CAM, LYST, MAG, MARS, NIPA1, NT5C2, PGAP1, PLP1, PNPLA6, RAB3GAP2, REEP1, REEP2, RTN2, SLC16A2, SLC33A1, SPAST, SPG11, SPG20, SPG21, SPG7, TECPR2, TFG, USP8, VPS37A, WDR48, ZFR, ZFYVE26, ZFYVE27
Speech-language disorder-1 Sanger Sequencing of the FOXP2 gene
Spherocytosis type 1 Sanger Sequencing of the ANK1 gene
Spherocytosis type 2 Sanger Sequencing of the SPTB gene
Sphingolipidosis: Gaucher, Metachromatic leukodystrophy, Krabbe, Niemann Pick, Fabry, Tay-Sachs, Sandhoff, Gangliosidosis, Farber, Wolman. NGS of 17 gene panel: ARSA, ASAH1, GALC, GBA, GBA2, GBA3, GLA, GLB1, GM2A, HEXA, HEXB, LIPA, NAGA, NPC1, PSAP, SCARB2, SMPD1
Spinal and Bulbar Atrophy, Kennedy type CAG Expansion detection in the AR gene (SBMA)
Spinal muscular atrophy Detection of large deletions and/or duplications in the SMN1, SMN2 genes by MLPA
Spinal Muscular Atrophy Proximal Adult Autosomal Dominant Sanger sequencing of the VAPB gene
Spinal muscular atrophy, distal, congenital nonprogressive Sanger Sequencing of the TRPV4 gene
Spinal muscular atrophy, distal, X-linked 3 NGS and Sanger Sequencing of the ATP7A gene
Spinal muscular atrophy, lower extremity, autosomal dominant NGS and Sanger Sequencing of the DYNC1H1 gene
Spinal Muscular Atrophy, proximal (SMA) Deletion detection in the SMN1 gene
Spinal Muscular Atrophy, proximal (SMA) Sanger sequencing of the SMN1 gene
Spinal muscular atrophy-1, 2, 3, 4, congenital nonprogressive, of lowe Next Generation Sequencing of 2 gene panel: TRPV4, VAPB
Spinal muscular atrophy-2 Deletion detection in the SMN1 gene
Spinal muscular atrophy-2 Sanger sequencing of the SMN1 gene
Spinal muscular atrophy, distal, autosomal recessive, X-linked and Chediak-Higashi syndrome NGS of 6 gene panel: ATP7A, DNAJB2, IGHMBP2, LYST, PLEKHG5, TRPV4
Spinocerebellar ataxia 2 (SCA2) CAG Expansion detection in the ATXN2 gene
Spinocerebellar ataxia 2 (SCA2) CAG Expansion detection in the ATXN2 gene by TP-PCR
Spinocerebellar ataxia 1 (SCA1) CAG Expansion detection in the ATXN1 gene
Spinocerebellar ataxia 10 ATTCT Expansion detection in the ATXN10 gene
Spinocerebellar ataxia 11 (SCA11) Sanger Sequencing of the TTBK2 gene
Spinocerebellar ataxia 12 (SCA12) CAG Expansion detection in the PPP2R2B gene
Spinocerebellar ataxia 14 Sanger Sequencing of the PRKCG gene
Spinocerebellar ataxia 15 NGS and Sanger Sequencing of the ITPR1 gene
Spinocerebellar ataxia 17 (SCA17) CAG Expansion detection in the TBP gene
Spinocerebellar ataxia 3 (SCA3) CAG Expansion detection in the ATXN3 gene
Spinocerebellar ataxia 31 NGS and Sanger Sequencing of the PLEKHG4 gene
Spinocerebellar ataxia 36 GGCCTG Expansion detection in the NOP56 gene
Spinocerebellar ataxia 5 (SCA5) Sanger Sequencing of exons 7,12 and 14 of SPTBN2 gene (SCA5)
Spinocerebellar ataxia 5 (SCA5) Next Generation Sequencing and Sanger Sequencing of the SPTBN2 gene
Spinocerebellar ataxia 6 (SCA6) CAG Expansion detection in the CACNA1A gene
Spinocerebellar ataxia 6 (SCA6) NGS and Sanger Sequencing in the CACNA1A gene
Spinocerebellar ataxia 6 (SCA6) Detection of deletions and/or duplications in CACNA1A gene by MLPA
Spinocerebellar ataxia 7 (SCA7) CAG Expansion detection in the ATXN7 gene
Spinocerebellar ataxia 7 (SCA7) CAG Expansion detection in the ATXN7 gene by TP-PCR
Spinocerebellar ataxia 8 (SCA8) CAG Expansion detection in the ATXN8 gene
Spinocerebellar ataxia, autosomal recessive 8 NGS and Sanger Sequencing of the SYNE1 gene
Spinocerebellar ataxia, autosomal recessive with axonal neuropathy Sanger Sequencing of the TDP1 gene
Spinocerebellar ataxia autosomal dominant NGS of 16 gene panel: AFG3L2, BEAN1, CACNA1A, EEF2, ELOVL4, FGF14, IFRD1, ITPR1, KCNC3, KCND3, PDYN, PLEKHG4, PRKCG, SPTBN2, TGM6, TTBK2
Spinocerebellar ataxia autosomal recessive, ataxia with axonal neuropathy NGS of 15 gene panel: ADCK3, ANO10, CP, GRID2, GRM1, RUBCN, SETX, SPTBN2, STUB1, SYNE1, SYT14, TDP1, TPP1, WWOX, ZNF592
Spondyloarthropathy, susceptibility to, 1 Detection of HLA-B27 allele
Spondylocarpotarsal synostosis syndrome NGS and Sanger Sequencing of the FLNB gene
Spondyloenchondrodysplasia with immune dysregulation Sanger Sequencing of the ACP5 gene
Spondylo-epi-(meta)-physeal dysplasias (SE(M)D): Types: Dyggve-Melchior-Clausen; SEMD, short limb abnormal calcification, Spondylo-megaepiphyseal-metaphyseal dysplasia, SED, Wolcott-Rallison; Otospondylomegaepiphyseal dysp Next Generation Sequencing of 8 gene panel: COL2A1, DYM, DDR2, EIF2AK3, MATN3, NKX3-2, SLC39A13, TRAPPC2
Spondyloepimetaphyseal dysplasia, aggrecan type NGS and Sanger sequencing of ACAN gene
Spondyloepiphyseal dysplasia tarda with progressive arthropathy, AR, Spondyloepiphyseal dysplasia tarda, X-linked Next Generation Sequencing of 2 gene panel: TRAPPC2, WISP3
Spondyloepiphyseal dysplasia tarda X- linked Sanger sequencing of the TRAPPC2
Spondyloepiphyseal dysplasia, Kimberley type NGS and Sanger sequencing of ACAN gene
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE Sanger Sequencing of the TRPV4 gene
Spondyloepiphyseal dysplasias (SED) AD, types: Kimberley; SED with congenital joint dislocations. SED with precocious osteoarthritis; SED cong nita, SED Maroteaux, Spondyloperipheral dysplasia, Platyspondylic dysplasia, Torr Next Generation Sequencing of 4 gene panel: ACAN, CHST3, COL2A1, TRPV4
Spondylometaepiphyseal dysplasia, short limb-hand type Sanger Sequencing of the DDR2 gene
Spondylometaphyseal dysplasia, Kozlowski type Sanger Sequencing of the TRPV4 gene
Spondyloperipheral dysplasia NGS and Sanger Sequencing of the COL2A1 gene
Spondyloperipheral dysplasia Large deletions and duplications in the COL2A1 gene by MLPA
Stargardt Syndrome NGS of 4 gene panel: ABCA4, CNGB3, ELOVL4, PROM1
Steinert Myotonic Dystrophy (DM1) Detection of the CTG expansion in the DMPK gene by TP-PCR
Stickler sydrome, type I, nonsyndromic ocular NGS and Sanger Sequencing of the COL2A1 gene
Stickler sydrome, type I, nonsyndromic ocular Large deletions and duplications in the COL2A1 gene by MLPA
Stickler syndrome, type III Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene
Stickler syndrome, type IV Sequencing of the COL9A1 gene
Stickler syndrome, type V Sequencing of the COL9A2 gene
Stickler syndrome, types I, II Detection of deletions and/or duplications in COL11A1 and COL2A1 genes by MLPA
Stickler syndrome, types I, II, III, AD, Stickler syndrome, type I, nonsyndromic, ocular, Stickler syndrome, type IV, V AR, Next Generation Sequencing of 5 gene panel: COL11A1, COL11A2, COL2A1, COL9A1, COL9A2
Stickler type I Syndrome (achondrogenesis type I) Next Generation Sequencing and Sanger Sequencing of the COL11A1 gene
Stickler type I Syndrome (achondrogenesis type I) NGS and Sanger Sequencing of the COL2A1 gene
Stickler type I Syndrome (achondrogenesis type I) Large deletions and duplications in the COL2A1 gene by MLPA
Stiff skin syndrome NGS and Sanger FBN1 gene
Study of RhD Zygosity Zygosity determination of RhD
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome Sanger Sequencing of the LIFR gene
Subcortical laminar heterotopia Sanger Sequencing of the PAFAH1B1 gene
Succinyl CoA:3-oxoacid CoA transferase deficiency Sanger sequencing of the OXCT1 gene
Sudden Death NGS of 154 gene panel:ABCA1, ABCC6, ABCC9, ACTA2, ACTC1, ACTN2, ADRB1, ADRB2, ADRB3, AGL, AKAP9, ANK2, ANKRD1, APOA1, APOB, APOE, BAG3, BRAF, CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALR3, CASQ2, CAV3, CBL, COL3A1, CRYAB, CSRP3, CTF1, DES, DMD, DPP6, DSC2, DSG2, DSP, DTNA, EFEMP2, EMD, ENPP1, EYA4, FBLN5, FBN1, FBN2, FHL1, FHL2, FKTN, FLNC, FXN, GAA, GJA1, GJA5, GLA, GPD1L, HCN1, HCN4, HRAS, ILK, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ11, KCNJ12, KCNJ2, KCNJ3, KCNJ5, KCNJ8, KCNQ1,KCNQ2, KRAS, LAMA4, LAMP2,LDB3, LDLR, LMNA, LPL, LRP6, MAP2K1, MAP2K2, MEF2A, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOT, MYOZ2, MYPN, NEBL, NEXN,NOTCH1,NPPA, NRAS, PCSK9,PDLIM3, PKP2, PKP4, PLEC, PLN, PNN, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RBM20, RPSA, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN10A, SCNN1B, SCNN1G, SDHA, SGCD, SHOC2, SLC25A4,SLC2A10, SMAD3, SNTA1, SOS1, SPRED1, SYNE1,SYNE2, TAZ, TCAP, TGFB3, TGFBR1, TGFBR2, TGFBR3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRPM4, TTN, VCL
Sudden Infant Death Syndrome Next Generation Sequencing of 4 gene panel: GJA1, KCND3, KCNJ8, SCN5A
Sulphation disorders group: Achondrogenesis 1B, Atelosteogenesis 2, Diastrophic dysplasia, Multiple Epiphyseal dysplasia, Spondyloepimetaphyseal dysplasia, Larsen and Ehlers-Danlos musculo-contractural type, syndromes. Next Generation Sequencing of 4 gene panel: CHST14, CHST3, PAPSS2, SLC26A2
Supravalvular Aortic Stenosis Next Generation Sequencing and Sanger Sequencing of the ELN gene
Syndactyly, type IV Sanger Sequencing of the LMBR1 gene
Syndromes in Pediatric Oncology: Wilms, Bloom, Sotos, Simpson-Golabi-Behmel, Nijmegen NGS of gene panel: BLM, GPC3, NBN, NSD1, RAD50, WT1
Syndromes in Pediatric Oncology: Wilms, Bloom, Sotos, Nijmgen, Perlman, Currarino, Rothmund-Thomson, Werner. NGS of 11 gene panel: BLM, NBN, NSD1, RAD50, WT1, DIS3L2, MNX1, NFIX, RECQL4, WRN, SMARCA4
Tangier disease NGS and Sanger Sequencing of the ABCA1 gene
Tay-Sachs disease Detection of Mutations c.1277insTATC, c.1421+1G>C and c.805G>A (G269S) in the HEXA gene
Telangiectasia ataxia Next Generation Sequencing and Sanger of the ATM gene
Telangiectasia ataxia Detection of large deletions and/or duplications in the ATM gene by MLPA
Telangiectasia ataxia NGS of 2 gene panel: ATM, MRE11A
Telangiectasia, hereditary hemorrhagic, type 1 (Rendu Osler Weber) Sanger sequencing of the ENG gene
Telangiectasia, hereditary hemorrhagic, type 1 (Rendu Osler Weber) Detection of large deletions / duplications in the ENG and ACVRL1 genes by MLPA
Telangiectasia, hereditary hemorrhagic, type 2 Sanger Sequencing of the ACVRL1 gene
Terminal osseous dysplasia Next Generation Sequencing and Sanger Sequencing of the FLNA gene
Thanatophoric Dysplasia Detection of mutations p.Arg248Cys, p.Ser249Cys, p.Gly370Cys, p.Ser371Cys, p.Tyr373Cys, p.Lys650Met c.2419T>G, c.2420G>T and c.2421A>N of the FGFR3 gene
Thanatophoric Dysplasia Detection of mutation p.Lys650Glu in the FGFR3 gene
Thanatophoric Dysplasia Sanger Sequencing of the FGFR3 gene
Thiamine metabolism dysfunction syndromes and Microcephaly. NGS of 9 gene panel: COX7B, GFM2, NUP62, RARS2, SLC19A2, SLC19A3, SLC25A12, SLC25A19, TPK1
Thoracic and abdominal Aortic Aneurysm, Familial and peripheral artery NGS of 6 gene panel: EFEMP2, FBLN5, SLC2A10, SMAD3, TGFBR1, TGFBR2
Thrombocytopenia with beta-thalassemia, X-linked Sanger Sequencing of the GATA1 gene
Thrombocytopenia, X-linked Sanger sequencing of the WAS gene
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia Sanger Sequencing of the GATA1 gene
Thrombocytopenia-absent radius syndrome (TAR syndrome) Sanger sequencing of the RBM8A gene
Thrombocytosis, benign familial microcytic Sanger sequencing of exon 12 of the MPL gene
Thrombophilia Simultaneous analysis of FII, FV and MTHFR
Thrombophilia Simultaneous analysis of FII, FV, MTHFR and PAI1
Thrombosis, hyperhomocysteinemic Sanger Sequencing of the CBS gene
Thyroid hormone resistance, autosomal recessive and dominant Sanger sequencing of the THRB gene
Tibial muscular dystrophy, tardive NGS and Sanger Sequencing of the TTN gene
Timothy syndrome NGS and Sanger Sequencing in the CACNA1C gene
TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form Sanger Sequencing of the TK2 gene
Toenail dystrophy, isolated Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene
Tooth agenesis, selective, 3 Sanger Sequencing of PAX9 gene
Torsion Dystonia Deletion detection of the TOR1A (DYT1) gene
Torsion dystonia (DYT6) Sanger Sequencing of the THAP1 gene
Townes-Brocks Syndrome Sanger sequencing of the SALL1 gene
Townes-Brocks Syndrome Detection of deletions and/or duplications in SALL1 gene by MLPA
Transient Bullous Dermolysis of the Newborn Sanger Seq.of exons 22, 36, 44, 45, 64, 81 and 86 of the COL7A1 gene
Transient Bullous Dermolysis of the Newborn Next Generation Sequencing and Sanger Sequencing of the COL7A1 gene
TRAPS (Familial Hibernian Fever) Sanger Sequencing of the TNFRSF1A gene
Treacher Collins 2, Syndrome Sanger Sequencing of the POLR1D gene
Treacher Collins 2, Syndrome NGS of 3 gene panel: POLR1C, POLR1D, TCOF1
Treacher Collins syndrome Detection of large deletions and/or duplications in the TCOF1 gene by MLPA
Treacher Collins syndrome NGS of 3 gene panel: POLR1C, POLR1D, TCOF1
Treacher Collins syndrome Sanger sequencing of the TCOF1 gene
Treacher Collins syndrome 3 Sanger Sequencing of the POLR1C gene
Tremor, hereditary essential, Chorea, hereditary benign, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Basal ganglia calcification. NGS of 4 gene panel: FUS, NKX2-1, PDGFB, SLC20A2
Trichodontoosseous syndrome, Odontoonychodermal dysplasia AR, Hajdu-Cheney syndrome o Arthrodentoosteodysplasia, Schopf-Schulz-Passarge syndrome Next Generation Sequencing of 3 gene panel: DLX3, NOTCH2, WNT10A
Trichorhinophalangeal syndrome, type I Sanger Sequencing of the TRPS1 gene
Trichorhinophalangeal syndrome, type I Large deletion and duplication detection in the EXT1 and TRSP1 genes by MLPA
Trichorhinophalangeal syndrome, type III Large deletion and duplication detection in the EXT1 and TRSP1 genes by MLPA
Trigonocephaly type 1 Sequencing of exon 10 of FGFR1 gene
Trigonocephaly type 1 Sanger sequencing of the FGFR1 gene
Trimethylaminuria Sanger Sequencing of the FMO3 gene
Triphalangeal thumb-polysyndactyly syndrome Sanger Sequencing of the LMBR1 gene
Trismus-pseudocamptodactyly syndrome NGS and Sanger Sequencing of the MYH8 gene
TRPV4 group: Metatropic dysplasia, Spondyloepimetaphyseal dysplasia, Maroteaux type, Spondylometaphyseal dysplasia, Kozlowski type, Brachyolmia, Familial digital arthropathy with brachydactyly, Parastremmatic dwarfism. Sanger Sequencing of the TRPV4 gene
Tuberous Sclerosis Sanger Sequencing of the TCS1 gene
Tuberous Sclerosis Sanger Sequencing of the TSC2 gene
Tuberous Sclerosis Detection of large deletions and/or duplications in the TSC1 and TSC2 gene by MLPA
Tuberous Sclerosis NGS of 2 gene panel: TSC1, TSC2
Tuberous Sclerosis, 1 Detection of large deletions and/or duplications in the TSC1 gene by MLPA
Tuberous Sclerosis, 1 Detection of large deletions and/or duplications in the TSC2 gene by MLPA
Tumor predisposition syndrome Sanger Sequencing of the BAP1 gene
Tumor predisposition syndrome Detection of deletions and/or duplications in BAP1 gene by MLPA
Tyrosinemia tipo I Screening of the most frecuent mutations in the FAH gene
Tyrosinemia tipo I Sanger Sequencing of the FAH gene
Tyrosinemia, type III Sanger Sequencing of the HPD gene
Ullrich Congenital Muscular Dystrophy Next Generation Sequencing and Sanger Sequencing of the COL6A2 gene
Ullrich Congenital Muscular Dystrophy Next Generation Sequencing and Sanger Sequencing of the COL6A3 gene
Ullrich Congenital Muscular Dystrophy NGS and Sanger Sequencing of the COL6A1 gene
Uniparental Disomy of chromosome 16 Uniparental Disomy study of chromosome 16
Uniparental Disomy, chromosome 14 Uniparental Disomy detection of chromosome 14
Uniparental Disomy, chromosome 14 Uniparental Disomy detection of chromosome 14q11.2-q22.1 region
Usher Syndrome and Non-Syndromic Deafness Mutation panel in genes ADGRV1, CDH23, CLRN1, DFNB31, MYO7A, PCDH15, USH1C, USH1G, USH1G
Usher Syndrome and Non-Syndromic Deafness NGS of 11 gene panel: ADGRV1, CDH23, CIB2, CLRN1, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A,DFNB31
Usher Syndrome Type 2A Next Generation Sequencing and Sanger Sequencing of the USH2A gene
Usher syndrome, type 1B NGS and Sanger Sequencing of the MYO7A gene
Usher syndrome, type 1C Sanger Sequencing of the USH1C gene
Usher syndrome, type 1D NGS and Sanger Sequencing in the CDH23 gene
Usher syndrome, type 1F NGS and Sanger Sequencing of the PCDH15 gene
Usher syndrome, type 1F Detection of deletions and/or duplications in PCDH 15 gene by MLPA
Usher syndrome, type 2C NGS and Sanger Sequencing of the ADGRV1 gene
van Buchem disease, type 2 Sanger Sequencing of the LRP5 gene
Van der Knaap disease, or Megalencephalic Leukoencephalopathy with Subcortical Cysts Sanger Sequencing of the MLC1 gene
Van der Woude syndrome Sanger Sequencing of exons 4 of the IRF6 gene
Van der Woude syndrome Sanger sequencing of the IRF6 gene
Vanishing White Matter Disease Sanger Sequencing of the EIF2B1 gene
Vanishing White Matter Disease Sanger Sequencing of the EIF2B5 gene
Vanishing White Matter Disease Sanger Sequencing of the EIF2B2 gene
Vanishing White Matter Disease Sanger Sequencing of the EIF2B3 gene
Vanishing White Matter Disease Sanger Sequencing of the EIF2B4 gene
Ventricular fibrillation, familial NGS of 9 gene panel: CACNA1C, CACNB2, DPP6, KCND3, KCNE5, KCNJ8, SCN1B, SCN5A, SCN10A
Ventricular fibrillation, paroxysmal familial, 2 Sanger sequencing of the DPP6 gene
Ventricular septal defect 1 Sanger sequencing of the GATA4 gene
Ventricular Tachycardia, catecholaminergic Polymorphic Next Generation Sequencing of 4 gene panel: ANK2, CASQ2, KCNJ2, RYR2
Ventricular tachycardia, catecholaminergic polymorphic, 1 NGS and Sanger Sequencing of the RYR2 gene
Vici syndrome Sanger sequencing of the EPG5 gene
Vitelliform macular dystrophy, adult-onset Sanger Sequencing of the BEST1 gene
Vitelliform macular dystrophy, adult-onset NGS of 2 gene panel: BEST1, PRPH2
Vohwinkel syndrome with ichthyosis Sanger sequencing of the LOR gene.
Von Hipel Lindau syndrome Detection of large deletions and/or duplications in VHL gene by MLPA
Von Hipel Lindau syndrome Sequencing of the VHL gene
Waardenburg syndrome Sanger sequencing of MITF gene
Waardenburg syndrome NGS of 7 gene panel: EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10, TYR
Waardenburg syndrome, type 1 Sanger Sequencing of the PAX3 gene
Waardenburg syndrome, type 1 Detection of large deletions and/or duplications in the PAX3 gene by MLPA
Waardenburg syndrome, type 3 Sanger Sequencing of the PAX3 gene
Waardenburg syndrome, type 3 Detection of large deletions and/or duplications in the PAX3 gene by MLPA
Wagner syndrome Sanger Sequencing of the VCAN gene
Warburg micro syndrome 1, 2, 3, 4 NGS of 4 gene panel: RAB18, RAB3GAP1, RAB3GAP2, TBC1D20
Warsaw breakage syndrome Sanger sequencing of the DDX11 gene
Weill-Marchesani 1, recessive & Weill-Marchesani-like syndrome, Geleophysic dysplasia 1. Next Generation Sequencing of 3 gene panel: ADAMTS10, ADAMTS17, ADAMTSL2
Weill-Marchesani like, syndrome Sanger Sequencing of the ADAMTS17 gene
Weill-Marchesani syndrome 1, recessive Sanger Sequencing of the ADAMTS10 gene
Weill-Marchesani syndrome 2, dominant NGS and Sanger FBN1 gene
Weissenbacher-Zweymuller syndrome Next Generation Sequencing and Sanger Sequencing of the COL11A2 gene
Welander distal myopathy Sanger sequencing of the TIA1 gene
Werner Syndrome Sanger sequencing of the WRN gene
Werner Syndrome Detection of the c.1105C>T mutation in the WRN gene
Weyers acrodental dysostosis Sanger sequencing of the EVC gene
Wieacker-Wolff syndrome Sanger Sequencing of the ZC4H2 gene
Williams-Beuren syndrome (WBS) Detection of deletions in the 7q11.2 genomic region
Wilson disease Sanger Sequencing of the ATP7B gene
Wilson disease Sanger Sequencing of exons 5, 6, 8, 14 and 17 of the ATP7B gene
Wilson disease Mutation screening in exons 2, 11, 13, 18 and 20 of the ATP7B gene
Wilson disease Detection of deletions and/or duplications in ATP7B gene by MLPA
Wiskott-Aldrich syndrome Sanger sequencing of the WAS gene
Wiskott-Aldrich syndrome Sanger sequencing of the WASF1 gene
Wiskott-Aldrich syndrome Sanger sequencing of the WASF2 gene
Wiskott-Aldrich syndrome Sanger sequencing of the WASL gene
Wiskott-Aldrich syndrome Sanger sequencing of the WIPF1 gene
Wolcott-Rallison syndrome Sanger Sequencing of the EIF2AK3 gene
Wolff-Parkinson White, syndrome Sequencing of the PRKAG2 gene
Wolfram syndrome Detection of large deletions and/or duplications in the WFS1 gene by MLPA
Wolfram syndrome Sanger Sequencing of the WFS1 gene
Xeroderma Pigmentosum Sanger Sequencing of the XPC gene
Xeroderma Pigmentosum Sanger Sequencing of the XPA gene
Xeroderma Pigmentosum NGS and Sanger Sequencing of the ERCC2 gene
Xeroderma Pigmentosum NGS of 9 gene panel: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
Xeroderma Pigmentosum, COFS, Cockayne and De Sanctis-Cacchione syndromes NGS of 10 gene panel: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, POLH, XPA, XPC
X-linked agammaglobulinemia Sanger sequencing of the BTK gene
X-linked agammaglobulinemia Large deletions and duplications detection in the BTK gene by MLPA
X-linked hypophosphatemic rickets Sanger Sequencing of the PHEX gene
X-Linked Myotubular Myopathy Sanger Sequencing of the MTM1 gene
X-Linked Myotubular Myopathy Detection of large deletions and/or duplications in the MTM1 gene by MLPA
X-linked Retinoschisis Sanger Sequencing of the RS1 gene
X-linked Retinoschisis Sanger Sequencing of exons 4 and 5 of the RS1 gene
X-Linked Severe Combined Immunodeficiency Sanger sequencing of IL2RG gene
XX Male syndrome Determination of the presence or absence of the SRY gene by PCR
Y chromosome microdeletions Detection of deletions in regions AZFa, AZFb, AZFc of the Y chromosome, associated to male infertility
Neurofibromatosis panel NGS of 3 genes: NF1, NF2, SPRED1
Breaston (Hereditary Breast and Ovarian Cancer) NGS of BRCA1 and BRCA2
Corvita (Hereditary Heart diseases) NGS of 44 genes: MYBPC3; TNNI3; TNNT2; MYH7; TTN; LMNA; MYH6; SCN5A; KCNQ1; KCNH2;SCN4B; KCNE1; KCNE2; KCNJ2; CACNA1C; CASQ2; RYR2; DSP; PKP2; CAV3;ACE; AGTR1; CMA1; SLC7A13; CYP11B2; GPD1L; KCNE3; SCN3B; SCN4B; SNTA1;AKAP9; ANK2; CACNB2; SCN1B; TPM1; DSG2; DSC2; KCNJ5; MYLK2; MYL2;MYL3; PRKAG2; ACTC1; TNNC1; PLN