Deutsch
IllnessHypercholesterolaemia, familial - PCSK9 gene
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Hypercholesterinämie, familiäre, PCSK9 gene
ID
HS0991
Number of genes
1
Accredited laboratory test
Examined sequence length
2,1 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 +
Sanger
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| PCSK9 | 2079 | NM_174936.4 | AD |
Informations about the disease
Clinical Comment
Lipid metabolism disorder with severely elevated low-density lipoprotein cholesterol + premature formation of atherosclerotic plaques in the coronaries, proximal aorta, other arteries, significantly increasing the risk of cardiovascular disease at early age; Xanthomas of the skin + tendons as hallmarks; high lethality due to early complications, myocardial infarction
Synonyms
- Allelic: Low density lipoprotein cholesterol level QTL 1 (PCSK9)
- Homozygous familial hypercholesterolemia (PCSK9)
- Hypercholesterolemia, familial, 3 (PCSK9)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined