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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
APOC3 | 300 | n.k. |
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.
- n.k.
OMIM-Ps
ICD10 Code
E78.-
Bioinformatics and clinical interpretation
No text defined