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

IllnessHypobeta-lipoproteinaemia

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Hypobeta-lipoproteinemia

ID
HS1234
Number of genes
1 Accredited laboratory test
Examined sequence length
1,4 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
ANGPTL31383NM_014495.4AR

Informations about the disease

Clinical Comment

Familial Hypobetalipoproteinemia is a not-so-rare disorder (~1/2 000) that impairs the absorption and transport of lipids, thus also lowering blood cholesterol levels. The severity of symptoms varies widely, leading to liver steatosis or cirrhosis in severe cases. Fat-soluble vitamins like E and A are less efficiently absorbed, and deficiency symptoms include peripheral and/or central neurodegeneration, hemolysis, retinopathy and coagulopathies. In children, digestive problems can lead to failure to thrive. Several monogenic cases are caused by mutations in the ANGPTL3 gene next to variations in the APOB gene and less commonly by defects in several other genes. In complex cases, multiple genetic variations appear to be involved in interactions that are not yet well understood (including genes that may not yet be identified). The diagnostic yield depends on the clinical workup. Negative DNA test results do not exclude clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK570370/

 

Synonyms
  • Hypobetalipoproteinemia, familial, 2 (ANGPTL3)
  • Hypolipidemia, familial, combined (ANGPTL3)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined