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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-GReferenz-Seq.Heredity
ACADS1239NM_000017.4AR
ACAT11284NM_000019.4AR
OVOL21563NM_000436.4AR
SLC16A11503NM_003051.4AR, AD
ETFA1002NM_000126.4AR
ETFB768NM_001985.3AR
ETFDH1854NM_004453.4AR

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.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined