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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessApolipoprotein C-III deficiency

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Apolipoprotein C-III deficiency

ID
HS1235
Number of genes
1 Accredited laboratory test
Examined sequence length
0,3 kb (Core-/Core-canditate-Genes)
- (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
APOC3300NM_000040.3AD

Informations about the disease

Clinical Comment

Hypercholesterolemia, Hyperlipidemia, Hyperlipoproteinemia, increased HDL cholesterol concentration, frequent Hypotriglyceridemia

 

Synonyms
  • Alias: Apolipoprotein C-III deficiency (APOC3)
  • Alias: Cholesterol-ester transfer protein deficiency (APOC3)
  • Alias: Familial hyperalphalipoproteinemia (APOC3)
  • Alias: Hyperalphalipoproteinemia (APOC3)
  • Sympt.: Hyperlipidämie
  • Sympt.: Hyperlipidämie, Amyloidosis
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined