Deutsch
IllnessKetogenesis disorders, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Ketogenesis disorders comprising altogether 11 curated genes according to the clinical signs
ID
KP0740
Number of genes
11
Accredited laboratory test
Examined sequence length
9,4 kb (Core-/Core-canditate-Genes)
15,2 kb (Extended panel: incl. additional genes)
15,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Lacking production of ketone bodies
Synonyms
- 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)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E74.8
Bioinformatics and clinical interpretation
No text defined