GENETION™

749 féle örökletes betegség egyidejű vizsgálata és

genetikai tanácsadás a PentaCore Laboratóriumban!

Mindannyiunkat foglalkoztató kérdés, hogy születendő - vagy már megszületett - gyermekünk egészséges lesz-e, illetve egészséges-e most. Ma már tudjuk, hogy sok betegség hátterében genetikai tényezők húzódnak meg, azonban ezeknek többségét eddig nem volt lehetséges előzetesen vizsgálni, genetikai szűrésnek alávetni, csak a már kialakult kórképből következtethettünk a mögöttes okokra.

Azonban a Semmelweis Egyetemen működő PentaCore laboratóriumunk legújabb fejlesztése révén - az országban egyedüliként - képesek vagyunk egyetlen mintavétellel 749 (nem tévedés: hétszáznegyvenkilenc!) genetikai, öröklődő betegség vizsgálatára. A vizsgálatban benne foglaltatnak idegrendszeri és izomeltérések, valamint a szív- és érrendszeri betegségek, továbbá a fejlődési- és anyagcsere zavarokat okozó genetikai anomáliák felderítése. A vizsgálat összeállítása a naprakész nemzetközi adatbázisok információit felhasználva történt meg, köztük az amerikai NCBI ClinVar és Genetic Testing Registry intézetek hivatalos adataiból.

A GENETION™ panelben vizsgált - és az oldal alján részletesen felsorolt - 323 gén a következő listában felsorolt öröklődő megbetegedésekkel hozható kapcsolatba.

• Az öröklődő megbetegedések listája

• 11p partial monosomy syndrome
  3-Methylglutaconic aciduria
  3-Methylglutaconic aciduria type 2
  Achondrogenesis type 2
  Achondroplasia
  Acne inversa, familial, 3
  Acrokeratosis verruciformis of Hopf
  Acromesomelic dysplasia Hunter Thompson type
  Acromicric dysplasia
  Acute intermittent porphyria
  Acute neuronopathic Gaucher's disease
  Adenomatous polyposis coli
  Adrenocortical carcinoma, hereditary
  Adrenoleukodystrophy
  Adult hypophosphatasia
  Adult junctional epidermolysis bullosa
  Adult onset ataxia with oculomotor apraxia
  Age-related macular degeneration 2
  Alagille syndrome 1
  Albinism, ocular, with sensorineural deafness
  Alopecia universalis congenita
  alpha Thalassemia
  Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
  Alpha-1-antitrypsin deficiency
  Alport syndrome, X-linked recessive
  Alzheimer disease, type 1
  Alzheimer disease, type 3
  Alzheimer disease, type 4
  Alzheimer's disease
  AML - Acute myeloid leukemia
  Amyloidogenic transthyretin amyloidosis
  Amyotrophic lateral sclerosis type 1
  Andersen Tawil syndrome
  Angelman syndrome
  ANGIOEDEMA, HEREDITARY, TYPE II
  Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
  Aniridia, cerebellar ataxia, and mental retardation
  Anophthalmia/Microphthalmia
  Aortic aneurysm, familial thoracic 4
  Aortic aneurysm, familial thoracic 6
  Aortic aneurysm, familial thoracic 7
  Argininosuccinate lyase deficiency
  Arrhythmogenic right ventricular cardiomyopathy, type 10
  Arrhythmogenic right ventricular cardiomyopathy, type 11
  Arrhythmogenic right ventricular cardiomyopathy, type 12
  Arrhythmogenic right ventricular cardiomyopathy, type 2
  Arrhythmogenic right ventricular cardiomyopathy, type 5
  Arrhythmogenic right ventricular cardiomyopathy, type 8
  Arrhythmogenic right ventricular cardiomyopathy, type 9
  Ataxia with vitamin E deficiency
  Ataxia-telangiectasia syndrome
  Atrial fibrillation, familial, 10
  Atrial fibrillation, familial, 12
  Atrial fibrillation, familial, 3
  Atrial fibrillation, familial, 4
  Atrial fibrillation, familial, 9
  Atrial septal defect 2
  Atrial septal defect 3
  Atrial septal defect 5
  Atrial septal defect with atrioventricular conduction defects
  Atrichia with papular lesions
  ATRIOVENTRICULAR SEPTAL DEFECT 4
  AUTISM, SUSCEPTIBILITY TO, X-LINKED 3
  AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV
  Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
  Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
  Avascular necrosis of femoral head, primary
  Bardet-Biedl syndrome
  Bardet-Biedl syndrome 14
  Bardet-Biedl syndrome 3
  Basal cell carcinoma, multiple
  BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
  Becker muscular dystrophy
  Beckwith-Wiedemann syndrome
  Benign scapuloperoneal muscular dystrophy with cardiomyopathy
  Bestrophinopathy, autosomal recessive
  beta Thalassemia
  Beta thalassemia, dominant inclusion body type
  Beta-hydroxyisobutyryl-CoA deacylase deficiency
  Biotinidase deficiency
  Bladder cancer
  Blepharophimosis, ptosis, and epicanthus inversus
  BLOOD GROUP, JOHN MILTON HAGEN SYSTEM
  Brachydactyly type A2
  Brachydactyly type B1
  Brachydactyly type C
  Brain small vessel disease with hemorrhage
  Branchiootic syndrome
  Branchiootic syndrome 3
  Branchiootorenal syndrome 2
  Bronchiectasis
  Brugada syndrome 1
  Brugada syndrome 2
  Brugada syndrome 3
  Brugada syndrome 4
  Brugada syndrome 5
  Brugada syndrome 6
  Brugada syndrome 7
  Brugada syndrome 8
  Cafe-au-lait macules with pulmonary stenosis
  Camptodactyly, tall stature, and hearing loss syndrome
  Camptomelic dysplasia
  Carbohydrate-deficient glycoprotein syndrome type I
  CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED
  Cardio-facio-cutaneous syndrome
  Cardiomyopathy dilated with woolly hair and keratoderma
  Cardiomyopathy, dilated, 1hh
  Cardiomyopathy, dilated, 1u
  Cardiomyopathy, dilated, 1v
  Cardiomyopathy, dilated, 3b
  Cardiomyopathy, familial hypertrophic, 19
  Carpal tunnel syndrome
  Cataract, autosomal dominant
  Catecholaminergic polymorphic ventricular tachycardia
  Caveolinopathies
  Central core disease
  Cerebellar ataxia infantile with progressive external ophthalmoplegia
  CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
  Ceroid lipofuscinosis neuronal 1
  Cervical cancer
  Charcot-Marie-Tooth disease dominant intermediate 3
  Charcot-Marie-Tooth disease type 2B1
  Charcot-Marie-Tooth disease type 2I
  Charcot-Marie-Tooth disease type 2J
  Charcot-Marie-Tooth disease, type 1E
  Charcot-Marie-Tooth disease, type 2A2
  Charcot-Marie-Tooth disease, type 2M
  Charcot-Marie-Tooth disease, type IA
  Charcot-Marie-Tooth disease, type IB
  CHARGE association
  Childhood hypophosphatasia
  Cholestanol storage disease
  Chondrosarcoma
  Choroid plexus papilloma
  Choroidal dystrophy, central areolar 2
  Choroideremia
  CHRNA1-Related Congenital Myasthenic Syndrome
  Chronic obstructive pulmonary disease
  Ciliary dyskinesia, primary, 11
  Ciliary dyskinesia, primary, 12
  Ciliary dyskinesia, primary, 14
  Ciliary dyskinesia, primary, 3
  Ciliary dyskinesia, primary, 7
  Ciliary dyskinesia, primary, 9
  Citrullinemia type II
  Coenzyme Q10 deficiency
  Coffin-Lowry syndrome
  Coloboma of optic disc
  Combined cellular and humoral immune defects with granulomas
  COMBINED IMMUNODEFICIENCY, X-LINKED
  Complement component 4, partial deficiency of
  Cone-rod dystrophy
  Cone-rod dystrophy 10
  Cone-rod dystrophy 12
  Cone-rod dystrophy 13
  Cone-rod dystrophy 2
  Cone-rod dystrophy 3
  Cone-rod dystrophy 6
  CONE-ROD DYSTROPHY, X-LINKED, 1
  Congenital aniridia
  Congenital bilateral absence of the vas deferens
  Congenital Cataracts, Facial Dysmorphism, and Neuropathy
  Congenital central hypoventilation
  Congenital ectodermal dysplasia of face
  Congenital hypomyelinating neuropathy
  Congenital muscular dystrophy, LMNA-related
  Congenital myotonia, autosomal dominant form
  Congenital myotonia, autosomal recessive form
  Conotruncal heart malformations
  Cornelia de Lange syndrome 1
  CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
  Coxa plana
  Craniofacial deafness hand syndrome
  Craniosynostosis 1
  Creatine phosphokinase, elevated serum
  Crouzon syndrome with acanthosis nigricans
  Cushing's symphalangism
  Cutis laxa, autosomal dominant
  Cutis laxa, x-linked
  Cystic fibrosis
  Cystinosis
  Cystinosis, ocular nonnephropathic
  Czech dysplasia metatarsal type
  Danon disease
  Deafness, autosomal dominant 11
  Deafness, autosomal dominant 13
  Deafness, autosomal dominant 23
  Deafness, autosomal dominant 2b
  Deafness, autosomal dominant 3a
  Deafness, autosomal recessive 12
  Deafness, autosomal recessive 18
  Deafness, autosomal recessive 1A
  Deafness, autosomal recessive 1A
  Deafness, autosomal recessive 2
  Deafness, autosomal recessive 23
  Deafness, autosomal recessive 53
  Deafness, digenic, GJB2/GJB3
  Deafness, X-linked 2
  Deficiency of alpha-glucosidase
  Deficiency of UTP-hexose-1-phosphate uridylyltransferase
  Dejerine-Sottas disease
  Dent disease 2
  Dermatopathia pigmentosa reticularis
  Desmoid disease, hereditary
  DFNA 2 Nonsyndromic Hearing Loss
  Diamond-Blackfan anemia 1
  Diamond-Blackfan anemia 10
  Diamond-Blackfan anemia 3
  Diamond-Blackfan anemia 5
  Diamond-Blackfan anemia 7
  Diamond-Blackfan anemia 8
  Diamond-Blackfan anemia 9
  Diffuse mesangial sclerosis
  Dilated cardiomyopathy 1A
  Dilated cardiomyopathy 1A
  Dilated cardiomyopathy 1AA
  Dilated cardiomyopathy 1BB
  Dilated cardiomyopathy 1C
  Dilated cardiomyopathy 1D
  Dilated cardiomyopathy 1E
  Dilated cardiomyopathy 1EE
  Dilated cardiomyopathy 1F
  Dilated cardiomyopathy 1FF
  Dilated cardiomyopathy 1I
  Dilated cardiomyopathy 1L
  Dilated cardiomyopathy 1O
  Dilated cardiomyopathy 1P
  Dilated cardiomyopathy 1R
  Dilated cardiomyopathy 1S
  Dilated cardiomyopathy 1W
  Dilated cardiomyopathy 1Y
  Dilated cardiomyopathy 1Z
  Dilated cardiomyopathy 2A
  Dilated cardiomyopathy 3A
  Disorder of fatty acid metabolism
  Distal spinal muscular atrophy, x-linked 3
  DNM2-related intermediate Charcot-Marie-Tooth neuropathy
  Dominant dystrophic epidermolysis bullosa with absence of skin
  Drash syndrome
  Duchenne muscular dystrophy
  Dyskeratosis congenita
  Dyskeratosis congenita X-linked
  Dystonia 3, torsion, X-linked
  Dystransthyretinemic euthyroidal hyperthyroxinemia
  Ectopia lentis, isolated, autosomal dominant
  Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form
  Ehlers-Danlos syndrome, hydroxylysine-deficient
  Ehlers-Danlos syndrome, procollagen proteinase deficient
  Ehlers-Danlos syndrome, type 1
  Ehlers-Danlos syndrome, type 1
  Ehlers-Danlos syndrome, type 1
  Ehlers-Danlos syndrome, type 2
  Ehlers-Danlos syndrome, type 3
  Ehlers-Danlos syndrome, type 3
  Ehlers-Danlos syndrome, type 4
  Ehlers-Danlos syndrome, type 4 variant
  Ehlers-Danlos syndrome, type 7A
  Ehlers-Danlos syndrome, type 7B
  Ehlers-Danlos-like syndrome due to tenascin-X deficiency
  Emery-Dreifuss muscular dystrophy 1, x-linked
  Encephalopathy, neonatal severe, due to MECP2 mutations
  Enhanced s-cone syndrome
  Enlarged vestibular aqueduct syndrome
  Epidermal nevus
  Epidermolysa bullosa simplex and limb girdle muscular dystrophy
  Epidermolysis bullosa herpetiformis, Dowling-Meara
  Epidermolysis bullosa pruriginosa
  Epidermolysis Bullosa Simplex
  Epidermolysis bullosa simplex with mottled pigmentation
  Epidermolysis bullosa simplex with pyloric atresia
  Epidermolysis bullosa simplex, autosomal recessive
  Epidermolysis bullosa simplex, Cockayne-Touraine type
  Epidermolysis bullosa simplex, Koebner type
  Epidermolysis bullosa simplex, Ogna type
  Epidermolysis bullosa with pyloric atresia
  Epidermolysis bullosa, lethal acantholytic
  Epiphyseal dysplasia, multiple, with myopia and conductive deafness
  Erythrocytosis, familial, 2
  Erythrokeratodermia variabilis et progressiva
  Esophageal cancer
  Fabry's disease
  Facioscapulohumeral muscular dystrophy
  Familial cancer of breast
  Familial colorectal cancer
  Familial dysautonomia
  Familial hypertrophic cardiomyopathy 1
  Familial hypertrophic cardiomyopathy 1
  Familial hypertrophic cardiomyopathy 1
  Familial hypertrophic cardiomyopathy 1
  Familial hypertrophic cardiomyopathy 10
  Familial hypertrophic cardiomyopathy 11
  Familial hypertrophic cardiomyopathy 13
  Familial hypertrophic cardiomyopathy 14
  Familial hypertrophic cardiomyopathy 15
  Familial hypertrophic cardiomyopathy 16
  Familial hypertrophic cardiomyopathy 18
  Familial hypertrophic cardiomyopathy 2
  Familial hypertrophic cardiomyopathy 3
  Familial hypertrophic cardiomyopathy 4
  Familial hypertrophic cardiomyopathy 6
  Familial hypertrophic cardiomyopathy 7
  Familial hypertrophic cardiomyopathy 8
  Familial infantile myasthenia
  Familial medullary thyroid carcinoma
  Familial porencephaly
  Familial porphyria cutanea tarda
  Familial restrictive cardiomyopathy 1
  Familial restrictive cardiomyopathy 3
  Fanconi anemia, complementation group A
  Fanconi anemia, complementation group B
  Fanconi anemia, complementation group C
  Fanconi anemia, complementation group F
  Fanconi anemia, complementation group G
  Fanconi's anemia
  Fetal hemoglobin quantitative trait locus 1
  FG syndrome
  Fibrochondrogenesis
  FIBROCHONDROGENESIS 2
  Fibrous dysplasia of jaw
  Fibular hypoplasia and complex brachydactyly
  Focal cortical dysplasia of Taylor
  Foveal hypoplasia and presenile cataract syndrome
  Frasier syndrome
  Friedreich's ataxia
  Frontotemporal dementia
  Gaucher disease
  Gaucher disease, perinatal lethal
  GAUCHER DISEASE, TYPE IIIC
  Gaucher's disease, type 1
  Geleophysic dysplasia 2
  Generalized dominant dystrophic epidermolysis bullosa
  Generalized epilepsy with febrile seizures plus, type 1
  Generalized epilepsy with febrile seizures plus, type 2
  Generalized epilepsy with febrile seizures plus, type 7
  Glycogen storage disease of heart, lethal congenital
  Glycogen storage disease type 4
  Gorlin syndrome
  Grebe syndrome
  Growth mental deficiency syndrome of Myhre
  Guillain-Barre syndrome, familial
  Hb SS disease
  Heart-hand syndrome, Slovenian type
  Heinz body anemias
  Hemoglobin H disease
  Hereditary angioneurotic edema
  Hereditary diffuse gastric cancer
  Hereditary factor IX deficiency disease
  Hereditary factor VIII deficiency disease
  Hereditary gingival fibromatosis
  Hereditary hemochromatosis
  Hereditary hemorrhagic telangiectasia type 1
  Hereditary liability to pressure palsies
  Hereditary mixed polyposis syndrome 2
  Hereditary motor and sensory neuropathy with optic atrophy
  Hereditary multiple exostoses, type II
  Hereditary nonpolyposis colorectal cancer type 6
  Hereditary pancreatitis
  Hirschsprung disease 1
  Histiocytic medullary reticulosis
  Holoprosencephaly 7
  Holt-Oram syndrome
  Hoyeraal Hreidarsson syndrome
  Hurler syndrome
  Hutchinson-Gilford syndrome
  Hyperparathyroidism 1
  Hypertrichotic osteochondrodysplasia
  Hypochondroplasia
  Hypogonadotropic hypogonadism
  HYPOPLASTIC LEFT HEART SYNDROME 2
  Hypothyroidism, congenital, nongoitrous, 5
  I cell disease
  Ichthyosis, hystrix-like, with deafness
  Inclusion body myopathy 2
  Incontinentia pigmenti syndrome
  Increased analgesia from kappa-opioid receptor agonist, female-specific
  Indifference to pain, congenital, autosomal recessive
  Infantile cortical hyperostosis
  Infantile hypophosphatasia
  Infantile Refsum's disease
  Intervertebral disc disorder
  Irido-corneo-trabecular dysgenesis
  Isolated coronal cynostosis
  Jackson-Weiss syndrome
  Jervell and Lange-Nielsen syndrome 2
  Jervell and Lange-Nielson syndrome
  Joubert syndrome 5
  Junctional epidermolysis bullosa gravis of Herlitz
  Juvenile myelomonocytic leukemia
  Juvenile nephropathic cystinosis
  Juvenile polyposis syndrome
  Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  Juvenile retinoschisis
  Kallmann syndrome 2
  Kallmann syndrome 5
  Kartagener syndrome
  Keratitis, hereditary
  Keratitis-ichthyosis-deafness syndrome, autosomal dominant
  Keratoderma palmoplantar deafness
  Keratosis follicularis
  KERATOSIS PALMOPLANTARIS STRIATA II
  Klein-Waardenberg's syndrome
  Kniest dysplasia
  Knuckle pads, deafness AND leukonychia syndrome
  Leber congenital amaurosis 1
  Leber congenital amaurosis 10
  Leber congenital amaurosis 11
  Leber congenital amaurosis 13
  Leber congenital amaurosis 14
  Leber congenital amaurosis 15
  Leber congenital amaurosis 2
  Leber congenital amaurosis 3
  Leber congenital amaurosis 4
  Leber congenital amaurosis 6
  Leber congenital amaurosis 7
  Leber congenital amaurosis 8
  LEFT VENTRICULAR NONCOMPACTION, X-LINKED
  Leigh's disease
  LEOPARD syndrome
  LEOPARD syndrome 1
  LEOPARD syndrome 2
  Lethal multiple pterygium syndrome
  Lethal tight skin contracture syndrome
  Levy-Hollister syndrome
  Lewy body dementia
  Li-Fraumeni syndrome 1
  Li-Fraumeni syndrome 2
  Limb-girdle muscular dystrophy, type 1B
  Limb-girdle muscular dystrophy, type 1C
  Limb-girdle muscular dystrophy, type 2A
  Limb-girdle muscular dystrophy, type 2B
  Limb-girdle muscular dystrophy, type 2F
  Linear nevus sebaceous syndrome
  Lipodystrophy, familial partial, type 2
  Lissencephaly 1
  Liver cancer
  Loeys-Dietz syndrome type 1A
  Loeys-Dietz syndrome type 1B
  Loeys-Dietz syndrome type 2A
  Loeys-Dietz syndrome type 2B
  Loeys-Dietz syndrome, type 1C
  Long QT syndrome 1
  Long QT syndrome 11
  Long QT syndrome 12
  Long QT syndrome 2
  Long QT syndrome 3
  Long QT syndrome 5
  Long QT syndrome 6
  Long QT syndrome 9
  Lowe syndrome
  Lung cancer
  Lymphangiomyomatosis
  Lynch syndrome I
  Lynch syndrome II
  MACULAR DEGENERATION, X-LINKED ATROPHIC
  Macular dystrophy, retinal, 2
  Macular dystrophy, vitelliform, adult-onset
  Macular dystrophy, vitelliform, adult-onset
  Malignant hyperthermia
  Malignant tumor of testis
  Malouf syndrome
  Mandibuloacral dysostosis
  Maple syrup urine disease
  Maple syrup urine disease, type 3
  Marfan's syndrome
  Marie Unna congenital hypotrichosis
  Marshall syndrome
  MASS syndrome
  Meacham syndrome
  Meckel syndrome, type 4
  MECP2 duplication syndrome
  Melanoma, cutaneous malignant 5
  Melnick-Fraser syndrome
  Meningioma, familial
  Menkes kinky-hair syndrome
  MENTAL RETARDATION, X-LINKED 19
  MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
  Mesothelioma, malignant
  Metachondromatosis
  Metachromatic leukodystrophy
  Methylmalonic acidemia with homocystinuria
  Methylmalonic aciduria cblA type
  Methylmalonic aciduria cblB type
  Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  Microvascular complications of diabetes 7
  Minicore myopathy with external ophthalmoplegia
  Mitochondrial DNA depletion syndrome 4B, MNGIE type
  Miyoshi myopathy
  Moyamoya disease 5
  Mucopolysaccharidosis type I
  Mucopolysaccharidosis, MPS-I-H/S
  Mucopolysaccharidosis, MPS-II
  Mucopolysaccharidosis, MPS-I-S
  Muenke syndrome
  Muir-Torre syndrome
  Multiple congenital exostosis
  Multiple endocrine neoplasia, type 1
  Multiple endocrine neoplasia, type 2
  Multiple endocrine neoplasia, type 2a
  Multiple endocrine neoplasia, type 2b
  Multiple epiphyseal dysplasia 6
  Multiple self healing squamous epithelioma
  Multiple synostoses syndrome 2
  Multisystemic smooth muscle dysfunction syndrome
  Muscular dystrophy, limb-girdle, type 2q
  Mutilating keratoderma
  Myasthenia, limb-girdle, familial
  Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
  Myasthenic syndrome, congenital, fast-channel
  Myasthenic syndrome, slow-channel congenital
  Myofibrillar myopathy, BAG3-related
  Myofibrillar myopathy, desmin-related
  Myofibrillar myopathy, ZASP-related
  Myopathy, centronuclear, 1
  Myopathy, distal, 1
  MYOPATHY, DISTAL, TATEYAMA TYPE
  Myopathy, distal, with anterior tibial onset
  Myopathy, myosin storage
  Naegeli-Franceschetti-Jadassohn syndrome
  Nail disorder, nonsyndromic congenital, 8
  Nasopharyngeal carcinoma
  Naxos disease
  Nemaline myopathy 5
  Neonatal adrenoleucodystrophy
  Neonatal intrahepatic cholestasis caused by citrin deficiency
  Neoplasm of stomach
  Neurofibromatosis, familial spinal
  Neurofibromatosis, type 1
  Neurofibromatosis, type 2
  Neurofibromatosis-Noonan syndrome
  NEUROPATHY, HEREDITARY SENSORY, TYPE ID
  Nevo syndrome
  Niemann-Pick disease type C1
  Niemann-Pick disease type C2
  Night blindness, congenital stationary, autosomal dominant 1
  Nonaka myopathy
  Non-ketotic hyperglycinemia
  Noonan syndrome 1
  Noonan syndrome 3
  Noonan syndrome 4
  Noonan syndrome 5
  Noonan syndrome 6
  NYSTAGMUS 6, CONGENITAL, X-LINKED
  Ocular albinism, type I
  Oculopharyngeal muscular dystrophy
  Optic nerve hypoplasia, bilateral
  Ornithine carbamoyltransferase deficiency
  Osler hemorrhagic telangiectasia syndrome
  Osteoarthritis of hip
  Osteoarthritis with mild chondrodysplasia
  Osteogenesis imperfecta
  Osteogenesis imperfecta type I
  Osteogenesis imperfecta type III
  Osteogenesis imperfecta type III
  Osteogenesis imperfecta with normal sclerae, dominant form
  Osteogenesis imperfecta, recessive perinatal lethal
  Osteoglophonic dysplasia
  Osteoporosis
  Osteosarcoma
  Otofaciocervical syndrome
  Otospondylomegaepiphyseal dysplasia
  Pancreatic cancer
  Parkinson disease 1
  Parkinson disease 15
  Parkinson disease 4
  Parkinson disease 6, autosomal recessive early-onset
  Parkinson disease 8
  Parkinson-dementia syndrome
  Parkinson's disease
  Paroxysmal extreme pain disorder
  Paroxysmal familial ventricular fibrillation
  Patterned dystrophy of retinal pigment epithelium
  Pena-Shokeir syndrome type I
  Pendred's syndrome
  Peroxisome biogenesis disorders
  Pfeiffer syndrome
  Phenylketonuria
  Pheochromocytoma
  Pick's disease
  Pigmentary retinal dystrophy
  Pigmented paravenous chorioretinal atrophy
  Platyspondylic lethal skeletal dysplasia Torrance type
  Polycystic kidney disease 2
  Polycystic kidney disease, adult type
  Polycystic kidney disease, infantile type
  Polyglandular autoimmune syndrome, type 1
  Polyglucosan body disease, adult
  Premature ovarian failure 3
  Pretibial epidermolysis bullosa
  Primary erythromelalgia
  Primary familial hypertrophic cardiomyopathy
  Progressive familial heart block type 1A
  Progressive sclerosing poliodystrophy
  Progressive supranuclear ophthalmoplegia
  Prostate cancer
  Pseudo-Hurler polydystrophy
  Recessive dystrophic epidermolysis bullosa
  Renal adysplasia
  Renal cell carcinoma, nonpapillary
  Reticulate acropigmentation of Kitamura
  Retinitis pigmentosa
  Retinitis pigmentosa 10
  Retinitis Pigmentosa 11
  Retinitis pigmentosa 12
  Retinitis Pigmentosa 13
  Retinitis Pigmentosa 14
  Retinitis Pigmentosa 15
  Retinitis Pigmentosa 17
  Retinitis Pigmentosa 19
  Retinitis Pigmentosa 20
  Retinitis Pigmentosa 25
  Retinitis Pigmentosa 26
  Retinitis Pigmentosa 30
  Retinitis Pigmentosa 31
  Retinitis Pigmentosa 33
  Retinitis Pigmentosa 35
  Retinitis Pigmentosa 36
  Retinitis pigmentosa 37
  Retinitis pigmentosa 38
  Retinitis pigmentosa 39
  Retinitis Pigmentosa 4
  Retinitis Pigmentosa 41
  Retinitis pigmentosa 42
  Retinitis pigmentosa 45
  Retinitis pigmentosa 50
  Retinitis pigmentosa 55
  Retinitis Pigmentosa 7
  Retinitis Pigmentosa 9
  RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS
  Retinoblastoma
  Rett's disorder
  Rhabdomyosarcoma alveolar
  Rippling muscle disease
  Robinow Sorauf syndrome
  Robinow syndrome, autosomal recessive
  Roussy-Lovy syndrome
  Saethre-Chotzen syndrome
  Scapuloperoneal myopathy, MYH7-related
  Scapuloperoneal syndrome, neurogenic, Kaeser type
  Schwannomatosis
  Scoliosis, idiopathic 3
  Senior-Loken syndrome 6
  Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
  Severe combined immunodeficiency due to ADA deficiency
  Severe congenital neutropenia X-linked
  Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
  Severe myoclonic epilepsy in infancy
  Severe x-linked myotubular myopathy
  Short qt syndrome 1
  Short qt syndrome 2
  Short qt syndrome 3
  Shprintzen-Goldberg syndrome
  Sialuria
  Sick sinus syndrome 1, autosomal recessive
  Sick sinus syndrome 2, autosomal dominant
  Sick sinus syndrome 3, susceptibility to
  Sickle cell-beta-thalassemia
  Sickle cell-hemoglobin C disease
  Simpson-Golabi-Behmel syndrome
  Skin fragility woolly hair syndrome
  Skin/hair/eye pigmentation, variation in, 1
  Skin/hair/eye pigmentation, variation in, 2
  Small cell cancer of the lung
  Smith-Lemli-Opitz syndrome
  Smith-Magenis syndrome
  Sotos' syndrome
  Spastic paraplegia 1
  Spastic paraplegia 3
  Spastic paraplegia 7
  Spastic paraplegia 8
  Spinocerebellar ataxia 1
  Spinocerebellar ataxia 2
  Spinocerebellar ataxia 7
  Spondyloepimetaphyseal dysplasia Strudwick type
  Spondyloepiphyseal dysplasia congenita
  Spondyloperipheral dysplasia
  Spongy degeneration of central nervous system
  Stargardt disease 4
  Stargardt's disease
  Stickler syndrome type 1
  Stickler syndrome, type 2
  Stickler syndrome, type 3
  Stickler syndrome, type 4
  STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
  Stiff skin syndrome
  Subacute neuronopathic Gaucher's disease
  Subcortical band heterotopia
  Sudden infant death syndrome
  Supravalvar aortic stenosis
  Tay-Sachs disease
  Tetralogy of Fallot
  Thalassemia
  Thanatophoric dysplasia type 1
  Thanatophoric dysplasia type 1
  Thanatophoric dysplasia, type 2
  Thanatophoric dysplasia, type 2
  Thoracic Aortic Aneurysms and Aortic Dissections
  Thrombocytopenia, x-linked
  THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT
  Thyroid cancer, follicular
  Timothy syndrome
  Transferrin serum level quantitative trait locus 2
  Transient bullous dermolysis of the newborn
  Treacher Collins syndrome
  Treacher collins syndrome 1
  Trigonocephaly, nonsyndromic
  Trimethylaminuria
  Tuberous sclerosis 1
  Tuberous sclerosis syndrome
  Turcot syndrome
  Tyrosinase-positive oculocutaneous albinism
  Usher syndrome, type 1
  Usher syndrome, type 1
  Usher syndrome, type 1B
  Usher syndrome, type 1B
  Usher syndrome, type 1D
  Usher syndrome, type 1D
  Usher syndrome, type 1D
  Usher syndrome, type 1F
  Usher syndrome, type IC
  USHER SYNDROME, TYPE IIA
  VACTERL association with hydrocephaly, X-linked
  Variegate porphyria
  VENTRICULAR SEPTAL DEFECT 1
  VENTRICULAR SEPTAL DEFECT 3
  Ventricular tachycardia, catecholaminergic polymorphic, 2
  Very long chain acyl-CoA dehydrogenase deficiency
  Vitelliform dystrophy
  Vitreoretinochoroidopathy dominant
  Von Hippel-Lindau syndrome
  Waardenburg syndrome type 1
  Warfarin response
  Weaver syndrome
  Weill-Marchesani syndrome 2
  Weissenbacher-Zweymuller syndrome
  Werner syndrome
  Williams syndrome
  Wilms' tumor
  Wilson's disease
  Wiskott-Aldrich syndrome
  Wolff-Parkinson-White pattern
  X-linked agammaglobulinemia
  X-linked agammaglobulinemia with growth hormone deficiency
  X-linked hydrocephalus syndrome
  X-linked infantile nystagmus
  X-linked lissencephaly
  X-linked mental retardation with marfanoid habitus syndrome
  X-linked severe combined immunodeficiency
  Zellweger syndrome

• A GENETION™ panelben vizsgált gének listája

• ABCA4	ABCC9	ABCD1	ACADVL	ACTA2
  ACTC1	ACTN2	ADA	AIPL1	AIRE
  AKAP9	ALPL	AMT	ANK2	APC
  APP	APTX	ARL6	ARSA	ASL
  ASPA	ATL1	ATM	ATP2A2	ATP7A
  ATP7B	ATXN1	ATXN2	ATXN7	BAG3
  BCKDHA	BCKDHB	BEST1	BMPR1A	BTD
  BTK	CA4	CACNA1C	CACNB2	CALR3
  CAPN3	CASQ2	CAV3	CCDC39	CCDC40
  CDH23	CEP290	CERKL	CFTR	CHAT
  CHD7	CHEK2	CHM	CHRNA1	CHRNB1
  CHRND	CHRNE	CLCN1	CNGB1	COL11A1
  COL11A2	COL1A1	COL1A2	COL2A1	COL3A1
  COL4A1	COL4A5	COL5A1	COL5A2	COL7A1
  COL9A1	CRB1	CRX	CTDP1	CTNS
  CYP27A1	DBT	DCX	DES	DHCR7
  DKC1	DLD	DMD	DNAH11	DNAH5
  DNAI1	DNAI2	DNM2	DOK7	DSC2
  DSG2	DSP	DYSF	ELN	EMD
  ENG	EXT1	EXT2	EYA1	EYS
  F8	F9	FANCA	FANCB	FANCC
  FANCF	FANCG	FBN1	FBXO7	FGFR1
  FGFR3	FMO3	FOXL2	FRG1	FRMD7
  FSCN2	FXN	GAA	GALT	GATA4
  GBA	GBE1	GCSH	GDF5	GJB2
  GJB3	GLA	GLDC	GNE	GNPTAB
  GPC3	GPD1L	GPR143	GUCY2D	HBA2
  HBB	HCN4	HEXA	HFE	HIBCH
  HMBS	HR	IDS	IDUA	IKBKAP
  IL2RG	IMPDH1	ITGB4	JAG1	JUP
  KCNE1	KCNE2	KCNE3	KCNH2	KCNJ2
  KCNQ1	KCNQ4	KIAA0196	KLHL7	KRAS
  KRT14	KRT5	L1CAM	LAMB3	LAMP2
  LDB3	LMNA	LRAT	LRRK2	MAPT
  MC1R	MECP2	MED12	MEN1	MERTK
  MFN2	MLH1	MMAA	MMAB	MMACHC
  MPZ	MSH2	MTM1	MUT	MYBPC3
  MYH11	MYH6	MYH7	MYL2	MYL3
  MYLK	MYO7A	MYOZ2	NF1	NF2
  NIPBL	NKX2-5	NPC1	NPC2	NR2E3
  NRAS	NSD1	OCA2	OCRL	OTC
  PABPN1	PAFAH1B1	PAH	PAX3	PAX6
  PCDH15	PEX1	PEX10	PEX13	PEX14
  PEX19	PEX26	PEX3	PEX5	PINK1
  PKD1	PKD2	PKHD1	PKP2	PLEC
  PLN	PLOD1	PMM2	PMP22	POLG
  PPT1	PRCD	PRKAG2	PROM1	PRPF31
  PRPF8	PRPH2	PSEN1	PSEN2	PTCH1
  PTPN11	RAF1	RAG1	RAG2	RAI1
  RAPSN	RB1	RDH12	RET	RHO
  ROR2	RP9	RPE65	RPGR	RPGRIP1
  RPL11	RPL35A	RPS10	RPS19	RPS24
  RPS26	RPS6KA3	RPS7	RS1	RS1
  RSPH4A	RSPH9	RYR1	RYR2	SCN1B
  SCN3B	SCN5A	SCN9A	SEMA4A	SEMA7A
  SERPINA1	SERPING1	SGCD	SH3BP2	SIX1
  SIX5	SLC25A13	SLC25A4	SLC26A4	SMAD3
  SMAD4	SNCA	SNRNP200	SNTA1	SOD1
  SOS1	SOX9	SPATA7	SPG7	TAF1
  TAZ	TBX5	TCOF1	TGFBR1	TGFBR2
  TMEM43	TNNC1	TNNI3	TNNT1	TNNT2
  TNXB	TOPORS	TP53	TPM1	TSC1
  TSC2	TTPA	TTR	TULP1	TWIST1
  TWIST2		USH1C	USH2A	VCL
  VHL	WAS	WRN	WT1

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