English
Klinische FragestellungMutations-Konfirmationsdiagnostik bei Stoffwechselkrankheiten nach Neugeborenenscreening
Zusammenfassung
Kurzinformation
Umfassendes panel für die Gen-Konfirmationsdiagnostik bei Stoffwechselkrankheiten nach Neugeborenenscreening mit 19 Leitlinien-kuratierten "core"-Genen
ID
GP5550
Anzahl Gene
19
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
26,9 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)
- (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
- Chorionzotten (CVS)
- EDTA-Blut (3-5 ml)
- Fruchtwasser (nach AC)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ACADM | 1266 | NM_000016.6 | AR | |
| ACADVL | 1968 | NM_000018.4 | AR | |
| BCKDHA | 1338 | NM_000709.4 | AR | |
| BCKDHB | 1179 | NM_000056.5 | AR | |
| BTD | 1572 | NM_001370658.1 | AR | |
| CPT1A | 2322 | NM_001876.4 | AR | |
| CPT2 | 1977 | NM_000098.3 | AD, AR | |
| DBT | 1449 | NM_001918.5 | AR | |
| DLD | 1530 | NM_000108.5 | AR | |
| DNAJC12 | 720 | NM_021800.3 | AR | |
| FAH | 1260 | NM_000137.4 | AR | |
| GALT | 1140 | NM_000155.4 | AR | |
| GCDH | 1317 | NM_000159.4 | AR | |
| GSTZ1 | 651 | NM_145870.3 | AR | |
| HADHA | 2292 | NM_000182.5 | AR | |
| HADHB | 1425 | NM_000183.3 | AR | |
| IVD | 1182 | NM_001159508.3 | AR | |
| PAH | 1359 | NM_000277.3 | AR | |
| SLC25A20 | 906 | NM_000387.6 | AR |
Infos zur Erkrankung
Synonyme
- Allelic: Fatty liver, acute, of pregnancy (HADHA)
- Allelic: HELLP syndrome, maternal, of pregnancy (HADHA)
- Acyl-CoA dehydrogenase, medium chain, deficiency of (ACADM)
- Biotinidase deficiency (BTD)
- CPT II deficiency, infantile (CPT2)
- CPT II deficiency, lethal neonatal (CPT2)
- CPT II deficiency, myopathic, stress-induced (CPT2)
- CPT deficiency, hepatic, type IA (CPT1A)
- Carnitine-acylcarnitine translocase deficiency (SLC25A20)
- Dihydrolipoamide dehydrogenase deficiency (DLD)
- Encephalopathy, acute, infection-induced, 4, susceptibility to (CPT2)
- Galactosemia (GALT)
- Glutaricaciduria, type I (GCDH)
- Hyperphenylalaninemia, mild, non-BH4-deficient (DNAJC12)
- Hyperphenylalaninemia, non-PKU mild (PAH)
- Isovaleric acidemia (IVD)
- LCHAD deficiency (HADHA)
- Maleylacetoacetate isomerase deficiency (GSTZ1)
- Maple syrup urine disease, type II (DBT)
- Maple syrup urine disease, type Ia (BCKDHA)
- Maple syrup urine disease, type Ib (BCKDHB)
- Mitochondrial trifunctional protein deficiency (HADHA)
- Phenylketonuria (PAH)
- Trifunctional protein deficiency (HADHB)
- Tyrosinemia, type I (FAH)
- VLCAD deficiency (ACADVL)
Erbgänge, Vererbungsmuster etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatik und klinische Interpretation
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