GENETION™

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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