IllnessKetolysis disorders, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Ketolysis disorders comprising 4 and altogether 8 curated genes according to the clinical signs
ID
KP7411
Number of genes
7
Accredited laboratory test
Examined sequence length
5,6 kb (Core-/Core-canditate-Genes)
9,3 kb (Extended panel: incl. additional genes)
9,3 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
Breakdown of ketones (formed by fatty acid oxidation)
see also ketogenesis panel
Synonyms
- ACAT2 deficiency (ACAT2)
- Acyl-CoA dehydrogenase, short-chain, deficiency of (ACADS)
- Alpha-methylacetoacetic aciduria / Ketoacidosis due to SCOT deficiency (ACAT1)
- Erythrocyte lactate transporter defect (SLC16A1)
- Glutaric acidemia IIA (ETFA)
- Glutaric acidemia IIB (ETFB)
- Glutaric acidemia IIC (ETFDH)
- Hyperinsulinemic hypoglycemia, familial, 7 (SLC16A1)
- Monocarboxylate transporter 1 deficiency (SLC16A1)
- Succinyl CoA:3-oxoacid CoA transferase deficiency (OXCT1)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E74.8
Bioinformatics and clinical interpretation
No text defined