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

IllnessKetogenesis disorders, differential diagnosis

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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-GReferenz-Seq.Heredity
ACADM1266NM_000016.6AR
ACADVL1968NM_000018.4AR
HADHA2292NM_000182.5AR
HADHB1425NM_000183.3AR
HMGCL978NM_000191.3AR
HMGCS21401NM_001166107.1AR
ACADS1239NM_000017.4AR
ETFA1002NM_000126.4AR
ETFB768NM_001985.3AR
ETFDH1854NM_004453.4AR
HADH945NM_005327.7AR

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

Bioinformatics and clinical interpretation

No text defined