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ErkrankungHT amedes STANDARD Heterozygotie-Test

Zusammenfassung

Kurzinformation

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/).

ID
RP1093
Anzahl Gene
109 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
304,9 kb (Core-/Basis-Gene)
- (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS + X

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ABCA35115AR
ABCC84746AD und/oder AR
ABCD12238XLR
ACADM1266AR
ACADVL1968AR
ACAT11284AR
AFF23936XLR
AGA1041AR
AGXT1179AR
AHI13591AR
AIRE1638AD und/oder AR
ALDOB1095AR
ALPL1575AD und/oder AR
ANO101983AR
ARSA1530AR
ASL1395AR
ASPA942AR
ATP7B4398AR
BBS11782AR und/oder Dig
BBS22166AR und/oder Dig
BCKDHB1179AR
BLM4254AR und/oder Sus
BTD1572AR
CBS1656AR
CC2D2A4863AR
CCDC88C6087AD und/oder AR
CEP2907440AR und/oder Dig
CFTR4443AD und/oder AR
CHRNE1482AD und/oder AR
CLCN12967AD und/oder AR
CLRN1699AR
CNGB32430AR
COL7A18835AD und/oder AR
CPT21977AD und/oder AR und/oder Dig
CYP11A11566AR
CYP21A21488AR
CYP27A11596AR
CYP27B11527AR
DHCR71428AR
DHDDS900AD und/oder AR
DLD1530AR
DMD11058XLR
DYNC2H112945AR und/oder Dig
ELP13999AR
ERCC22283AR
EVC23927AD und/oder AR
F87056XLR und/oder Sus
F91386XL
FAH1260AR
FANCC1677AR und/oder Sus
FKRP1488AR
FKTN1386AR
FMO31599AR
FMR11899XL
GAA2859AR
GALT1140AR und/oder Dig
GBA1611AD und/oder AR und/oder Sus
GBE12109AR
GJB2681AD und/oder AR und/oder Dig
GLA1290XL und/oder Mult
GNPTAB3771AR
GRIP13231AR
HBA1429AD und/oder AR
HBA2429AD und/oder AR
HBB444AD und/oder AR und/oder Mult
HEXA1590AR
HPS12103AR
HPS33015AR
IDUA1962AR
L1CAM3774XLR und/oder Dig
LRP213968AR
MCCC21692AR
MCOLN11743AR
MCPH12508AR
MID12004XLR
MLC11134AR
MMACHC849AR
MMUT2253AR
MVK1191AD und/oder AR
NAGA1236AR
NPHS13726AR und/oder Dig
NR0B11413XL
OCA22517AR und/oder Dig
OTC1065XLR
PAH1359AR
PCDH155868AR und/oder Dig
PKHD112225AR
PLP1834XLR
PMM2741AR
POLG3720AD und/oder AR
PRF11668AR
RARS21737AR
RNASEH2B939AR
RPGR2448XL
RS1675XLR
SCO2801AD und/oder AR
SLC19A31491AR
SLC26A22220AR
SLC26A42343AR und/oder Dig
SLC37A41291AR
SLC6A81908XLR
SMN1885AR
SMPD11896AR
TF2097AR
TMEM216438AR
TNXB12729AD und/oder AR
TYR1590AD und/oder AR und/oder Dig
USH2A15609AR
XPC2823AR

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_RP1093

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • 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
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Z31.5

Bioinformatik und klinische Interpretation

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