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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ACADS1239AR
ACAT11284AR
OXCT11563AR
SLC16A11503AR
ETFA1002AR
ETFB768AR
ETFDH1854AR

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