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

IllnessKetolysis disorders, differential diagnosis

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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