Klinische FragestellungHT amedes STANDARD Heterozygotie-Test ohne Sensorik-Gene

NGS + X

Auf der Grundlage fachlicher Empfehlungen (1) bietet amedes ein NGS-Panel zur Erfassung von Genmutationen an, die mit autosomal-rezessiven und X-gebundenen Krankheiten assoziiert sind. Es umfasst 107 Gene und die damit assoziierten Erbkrankheiten. Der cut-off-Wert für einen Einschluss liegt bei einer Heterozygoten-Frequenz von ≥ 1:200 für autosomal-rezessive Erkrankungen (bezogen auf mindestens eine US-amerikanische Subpopulation (2)).

Die kumulative Häufigkeit für Risikopaare (die Wahrscheinlichkeit, dass ein untersuchtes Paar in mindestens einem Gen eine heterozygote Variante aufweist) hängt in hohem Maße von der Ethnizität und dem Verwandtschaftsgrad ab (2).

Referenzen:

(1) Gregg et al.; https://doi.org/10.1038/s41436-021-01203-z

(2) Schmidtke J, Krawczak M.; http://doi.org/10.1016/j.gim.2022.01.003

• Alias: EHT amedes...
• HT ersetzt EHT
• Mutation carrier test; Carrier test
• Für konsanguine Paare aus mitteleuropäischen und anderen Bevölkerungen ...
• ...ohne Störungen der Sensorik, Geschlechtsdifferenzierung oder geistige Entwicklung
• 3-methylcrotonyl CoA carboxylase 2 deficiency (MCCC2)
• AR polycystic kidney disease (PKHD1)
• Achondrogenesis Ib (SLC26A2)
• Achromatopsia 3 (CNGB3)
• Adrenal hypoplasia, congenital (NR0B1)
• Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (CYP11A1)
• Adrenoleukodystrophy (ABCD1)
• Aicardi Goutieres syndrome 2 (RNASEH2B)
• Argininosuccinate aciduria (ASL)
• Aspartylglucosaminuria (AGA)
• Atransferrinemia (TF)
• Autoimmune polyendocrinopathy syndrome type I (AIRE)
• Bardet–Biedl syndrome 1 (BBS1)
• Bardet–Biedl syndrome 2 (BBS2)
• Basal ganglia disease, biotin-responsive (SLC19A3)
• Biotinidase deficiency (BTD)
• Bloom syndrome (BLM)
• Canavan disease (ASPA)
• Carbohydrate-deficient glycoprotein syndrome type Ia (PMM2)
• Cardiomyopathy, dilated, 1X (FKTN)
• Carnitine palmitoyltransferase II deficiency, infantile (CPT2)
• Carnitine palmitoyltransferase II deficiency, lethal neonatal (CPT2)
• Cerebral creatine deficiency syndrome 1 (SLC6A8)
• Cerebrooculofacioskeletal syndrome 2 (ERCC2)
• Cerebrotendinous xanthomatosis (CYP27A1)
• Chondroectodermal dysplasia (EVC2)
• Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2)
• Congenital disorder of glycosylation type 1 (DHDDS)
• Congenital hydrocephalus 1 (CCDC88C)
• Congenital myotonia, AR form (CLCN1)
• Cystic fibrosis (CFTR)
• Deafness AR 4 (SLC26A4)
• Deafness, AR 23 (PCDH15)
• Developmental and epileptic encephalopathy 1 (ARX)
• Diabetes mellitus, permanent neonatal 3 (ABCC8)
• Dihydrolipoamide dehydrogenase deficiency (DLD)
• Donnai–Barrow syndrome (LRP2)
• Ehlers–Danlos-like syndrome due to tenascin-X deficiency (TNXB)
• Epiphyseal dysplasia, multiple, 4 (SLC26A2)
• Fabry disease (GLA)
• Familial dysautonomia (ELP1)
• Fanconi anemia, complementation group C (FANCC)
• Finnish congenital nephrotic syndrome (NPHS1)
• Fragile X syndrome (FMR1)
• Fraser syndrome (GRIP1)
• Friedreich ataxia (FXN)
• GBE1-related disorders (GBE)
• Galactosemia (GALT)
• Gaucher disease, type I (GBA)
• Gaucher disease, type II (GBA)
• Glycogen storage disease Ib (SLC37A4)
• Glycogen storage disease Ic (SLC37A4)
• Glycogen storage disease type IA (G6PC1)
• Glycogen storage disease, type II, Pompe disease (GAA)
• Glycogen storage disease, type IV (GBE)
• Hemophagocytic lymphohistiocytosis, familial, 2 (PRF1)
• Hemophilia A (F8)
• Hemophilia B (F9)
• Hereditary fructosuria (ALDOB)
• Hermansky Pudlak syndrome 1 (HPS1)
• Hermansky Pudlak syndrome 3 (HPS3)
• Homocystinuria, B6 responsive + nonresponsive (CBS)
• Hydrocephalus due to congenital stenosis of aqueduct of Sylvius (L1CAM)
• Hyper-IgD syndrome (MVK)
• Hyperoxaluria, primary type I (AGXT)
• Hypophosphatasia, adult (ALPL)
• Hypophosphatasia, childhood + infantile (ALPL)
• Joubert syndrome 2 (TMEM216)
• Joubert syndrome 3 (AHI1)
• Joubert syndrome 5 (CEP290)
• Joubert syndrome 9 (CC2D2A)
• Leber congenital amaurosis 10 (CEP290)
• Macular degeneration, XL atrophic (RPGR)
• Maple syrup urine disease (BCKDHB)
• Meckel syndrome 2 (TMEM216)
• Meckel syndrome 6 (CC2D2A)
• Medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADM)
• Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
• Mental retardation, XL, associated with fragile site FRAXE (AFF2)
• Metachromatic leukodystrophy (ARSA)
• Methylmalonic aciduria with homocystinuria cblC type (MMACHC)
• Methylmalonic aciduria–methylmalonyl–CoA mutase deficiency (MMUT)
• Mevalonic aciduria (MVK)
• Mitochondrial DNA depletion syndrome 4A (POLG)
• Mitochondrial DNA depletion syndrome 4B (POLG)
• Mitochondrial complex IV deficiency, nuclear type 2 (SCO2)
• Mucolipidosis type II alpha/beta (GNPTAB)
• Mucolipidosis type III alpha/beta (GNPTAB)
• Mucolipidosis type IV (MCOLN1)
• Mucopolysaccharidosis, Ich, Hurler S (IDUA)
• Mucopolysaccharidosis, Ih/s, Hurler–Scheie S (IDUA)
• Muscular dystrophy, Becker type (DMD)
• Muscular dystrophy, Duchenne type (DMD)
• Muscular dystrophy–dystroglycanopathy, type A, 5 (FKRP)
• Muscular dystrophy–dystroglycanopathy, type B, 5 (FKRP)
• Myasthenic syndrome, congenital, 4A, slow-channel (CHRNE)
• Myasthenic syndrome, congenital, 4B, fast-channel (CHRNE)
• Nemaline myopathy 2 (NEB)
• Niemann–Pick disease, type A (SMPD1)
• Niemann–Pick disease, type B (SMPD1)
• Nonsyndromic hearing loss AD 3A (GJB2)
• Nonsyndromic hearing loss AR 1A (GJB2)
• Oculocutaneous albinism brown + type II (OCA2)
• Oculocutaneous albinism type 1A + 1B (TYR)
• Opitz GBBB syndrome, type I (MID1)
• Ornithine transcarbamylase deficiency (OTC)
• Pendred syndrome (SLC26A4)
• Phenylketonuria (PAH)
• Pontocerebellar hypoplasia type 6 (RARS2)
• Primary microcephaly 1, AR (MCPH1)
• Recessive dystrophic epidermolysis bullosa (COL7A1)
• Retinitis pigmentosa 3 (RPGR)
• Retinitis pigmentosa 59 (DHDDS)
• Retinitis pigmentosa 74 (BBS2)
• Retinitis pigmentosa, XL, + sinorespiratory infections, with/-out deafness (RPGR)
• Retinoschisis 1, XL, juvenile (RS1)
• Schindler disease, type 1 (NAGA)
• Schindler disease, type 3 (NAGA)
• Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1)
• Sickle cell anemia β-thalassemia (HBB)
• Smith–Lemli–Opitz syndrome (DHCR7)
• Spastic paraplegia 2, XL (PLP1)
• Spinal muscular atrophy types I, II, III, IV (SMN1)
• Spinocerebellar ataxia 10 (ANO10)
• Surfactant metabolism dysfunction, pulmonary 3 (ABCA3)
• Tay–Sachs disease (HEXA)
• Trichothiodystrophy 1, photosensitive (ERCC2)
• Trimethylaminuria (FMO3)
• Usher syndrome 3a (CLRN1)
• Usher syndrome, type 1F (PCDH15)
• Usher syndrome, type 2A (USH2A)
• Very long chain acyl-CoA dehydrogenase deficiency (ACADVL)
• Vitamin D–dependent rickets, type 1 (CYP27B1)
• Walker–Warburg congenital muscular dystrophy (FKTN)
• Wilson disease (ATP/B)
• Xeroderma pigmentosum (XPC)
• ɑ-Methylacetoacetic aciduria (ACAT1)
• ɑ-Thalassemia (HBA1)
• ɑ-Thalassemia (HBA2)