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

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

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ACADM1266AR
ACADVL1968AR
HADHA2292AR
HADHB1425AR
HMGCL978AR
HMGCS21401AR
ACADS1239AR
ETFA1002AR
ETFB768AR
ETFDH1854AR
HADH945AR

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