ErkrankungHT amedes STANDARD Heterozygotie-Test
Zusammenfassung
Mit diesem panel für Menschen mitteleuropäischer Herkunft und andere Ethnien werden asymptomatische Einzelpersonen und Paare auf hetero- bzw. hemizygote Trägerschaft für bestimmte autosomal rezessiv und X-chromosomal vererbbare Erkrankungen untersucht, inklusive Störungen der Sensorik, Geschlechtsentwicklung und geistigen Entwicklung. Mit einem Trägerschafts-Gesamtrisiko für Paare von 3,6% erfassen diese Gene mehr als die Hälfte der bekannten autosomal-rezessiv (und auch prinzipiell der X-gebunden) vererbten Erkrankungen (Schmidtke und Krawczak, https://pubmed.ncbi.nlm.nih.gov/35094930/).
- (Erweitertes Panel)
- EDTA-Blut (3-5 ml)
NGS + X
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ABCA3 | 5115 | AR | |
ABCC8 | 4746 | AD und/oder AR | |
ABCD1 | 2238 | XLR | |
ACADM | 1266 | AR | |
ACADVL | 1968 | AR | |
ACAT1 | 1284 | AR | |
AFF2 | 3936 | XLR | |
AGA | 1041 | AR | |
AGXT | 1179 | AR | |
AHI1 | 3591 | AR | |
AIRE | 1638 | AD und/oder AR | |
ALDOB | 1095 | AR | |
ALPL | 1575 | AD und/oder AR | |
ANO10 | 1983 | AR | |
ARSA | 1530 | AR | |
ASL | 1395 | AR | |
ASPA | 942 | AR | |
ATP7B | 4398 | AR | |
BBS1 | 1782 | AR und/oder Dig | |
BBS2 | 2166 | AR und/oder Dig | |
BCKDHB | 1179 | AR | |
BLM | 4254 | AR und/oder Sus | |
BTD | 1572 | AR | |
CBS | 1656 | AR | |
CC2D2A | 4863 | AR | |
CCDC88C | 6087 | AD und/oder AR | |
CEP290 | 7440 | AR und/oder Dig | |
CFTR | 4443 | AD und/oder AR | |
CHRNE | 1482 | AD und/oder AR | |
CLCN1 | 2967 | AD und/oder AR | |
CLRN1 | 699 | AR | |
CNGB3 | 2430 | AR | |
COL7A1 | 8835 | AD und/oder AR | |
CPT2 | 1977 | AD und/oder AR und/oder Dig | |
CYP11A1 | 1566 | AR | |
CYP21A2 | 1488 | AR | |
CYP27A1 | 1596 | AR | |
CYP27B1 | 1527 | AR | |
DHCR7 | 1428 | AR | |
DHDDS | 900 | AD und/oder AR | |
DLD | 1530 | AR | |
DMD | 11058 | XLR | |
DYNC2H1 | 12945 | AR und/oder Dig | |
ELP1 | 3999 | AR | |
ERCC2 | 2283 | AR | |
EVC2 | 3927 | AD und/oder AR | |
F8 | 7056 | XLR und/oder Sus | |
F9 | 1386 | XL | |
FAH | 1260 | AR | |
FANCC | 1677 | AR und/oder Sus | |
FKRP | 1488 | AR | |
FKTN | 1386 | AR | |
FMO3 | 1599 | AR | |
FMR1 | 1899 | XL | |
GAA | 2859 | AR | |
GALT | 1140 | AR und/oder Dig | |
GBA | 1611 | AD und/oder AR und/oder Sus | |
GBE1 | 2109 | AR | |
GJB2 | 681 | AD und/oder AR und/oder Dig | |
GLA | 1290 | XL und/oder Mult | |
GNPTAB | 3771 | AR | |
GRIP1 | 3231 | AR | |
HBA1 | 429 | AD und/oder AR | |
HBA2 | 429 | AD und/oder AR | |
HBB | 444 | AD und/oder AR und/oder Mult | |
HEXA | 1590 | AR | |
HPS1 | 2103 | AR | |
HPS3 | 3015 | AR | |
IDUA | 1962 | AR | |
L1CAM | 3774 | XLR und/oder Dig | |
LRP2 | 13968 | AR | |
MCCC2 | 1692 | AR | |
MCOLN1 | 1743 | AR | |
MCPH1 | 2508 | AR | |
MID1 | 2004 | XLR | |
MLC1 | 1134 | AR | |
MMACHC | 849 | AR | |
MMUT | 2253 | AR | |
MVK | 1191 | AD und/oder AR | |
NAGA | 1236 | AR | |
NPHS1 | 3726 | AR und/oder Dig | |
NR0B1 | 1413 | XL | |
OCA2 | 2517 | AR und/oder Dig | |
OTC | 1065 | XLR | |
PAH | 1359 | AR | |
PCDH15 | 5868 | AR und/oder Dig | |
PKHD1 | 12225 | AR | |
PLP1 | 834 | XLR | |
PMM2 | 741 | AR | |
POLG | 3720 | AD und/oder AR | |
PRF1 | 1668 | AR | |
RARS2 | 1737 | AR | |
RNASEH2B | 939 | AR | |
RPGR | 2448 | XL | |
RS1 | 675 | XLR | |
SCO2 | 801 | AD und/oder AR | |
SLC19A3 | 1491 | AR | |
SLC26A2 | 2220 | AR | |
SLC26A4 | 2343 | AR und/oder Dig | |
SLC37A4 | 1291 | AR | |
SLC6A8 | 1908 | XLR | |
SMN1 | 885 | AR | |
SMPD1 | 1896 | AR | |
TF | 2097 | AR | |
TMEM216 | 438 | AR | |
TNXB | 12729 | AD und/oder AR | |
TYR | 1590 | AD und/oder AR und/oder Dig | |
USH2A | 15609 | AR | |
XPC | 2823 | AR |
Infos zur Erkrankung
illness_ClinicalComment_RP1093
- HT ersetzt EHT
- Mutation carrier test; Carrier test
- Für konsanguine Paare aus mitteleuropäischen und anderen Bevölkerungen ...
- ...inclusive 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)
- Tyrosinemia type I (FAH)
- 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)
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AD und/oder AR und/oder Mult
- AD und/oder AR und/oder Sus
- AR
- AR und/oder Dig
- AR und/oder Sus
- XL
- XL und/oder Mult
- XLR
- XLR und/oder Dig
- XLR und/oder Sus
- Multiple OMIM-Ps
Bioinformatik und klinische Interpretation
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