English
Klinische FragestellungKetogenese-Störungen, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Ketogenese-Störungen mit insgesamt 11 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
KP0740
Anzahl Gene
11
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
9,4 kb (Core-/Core-canditate-Gene)
15,2 kb (Erweitertes Panel: inkl. additional genes)
15,2 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
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 | |
| HADHA | 2292 | NM_000182.5 | AR | |
| HADHB | 1425 | NM_000183.3 | AR | |
| HMGCL | 978 | NM_000191.3 | AR | |
| HMGCS2 | 1401 | NM_001166107.1 | AR | |
| ACADS | 1239 | NM_000017.4 | AR | |
| ETFA | 1002 | NM_000126.4 | AR | |
| ETFB | 768 | NM_001985.3 | AR | |
| ETFDH | 1854 | NM_004453.4 | AR | |
| HADH | 945 | NM_005327.7 | AR |
Infos zur Erkrankung
Klinischer Kommentar
fehlende Produktion von Ketonkörpern
Synonyme
- Alias: Disorders of fatty acid oxidation and ketogenesis
- Alias: Disorders of mitochondrial fatty acid oxidation, included
- Alias: Disorders of ubiquinone metabolism and biosynthesis, included
- 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH)
- Acyl-CoA dehydrogenase, medium chain, deficiency of (ACADM)
- Acyl-CoA dehydrogenase, short-chain, deficiency of (ACADS)
- Allelic: Fatty liver, acute, of pregnancy (HADHA)
- Allelic: HELLP syndrome, maternal, of pregnancy (HADHA)
- Electron transfer flavoprotein deficiency, alpha chain (ETFA)
- Electron transfer flavoprotein deficiency, beta chain (ETFB)
- Glutaric acidemia IIA (ETFA)
- Glutaric acidemia IIB (ETFB)
- Glutaric acidemia IIC (ETFDH)
- HMG-CoA lyase deficiency (HMGCL)
- HMG-CoA synthase-2 deficiency (HMGCS2)
- Hyperinsulinemic hypoglycemia, familial 4 (HADH)
- LCHAD deficiency (HADHA)
- Medium-chain acyl CoA dehydrogenase deficiency (ACADM)
- Mitochondrial trifunctional protein deficiency (HADHA)
- Trifunctional protein deficiency (HADHB)
- Very long-chain acyl CoA dehydrogenase [VLCAD] deficiency (ACADVL)
Erbgänge, Vererbungsmuster etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E74.8
Bioinformatik und klinische Interpretation
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