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

IllnessHepatic lipase deficiency

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion hepatic lipase deficiency

ID
LS1234
Number of genes
1 Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Core-canditate-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

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
LIPC1500NM_000236.3AR

Informations about the disease

Clinical Comment

Hyperalphalipoproteinemia with elevated plasma cholesterol, triglyceride levels with marked enrichment of low- + high-density lipoproteins, presence of circulating beta-very low density lipoproteins, elevated HDL cholesterol levels, in the presence of very low/undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease

 

Synonyms
  • Allelic: Diabetes mellitus, noninsulin-dependent (LIPC)
  • Hyperlipidemia due to hepatic lipase deficiency (LIPC)
  • Hyperlipidemia due to hepatic triacylglycerol lipase deficiency (LIPC)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined