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

IllnessHypobeta-lipoproteinemia, differential diagnosis

Summary

Short information

A curated panel containing 9 genes for the comprehensive analysis of the genetically caused forms of Hypobeta lipoproteinemia

ID
HP0909
Number of genes
7 Accredited laboratory test
Examined sequence length
18,8 kb (Core-/Base-Genes)
22,0 kb (Extended panel)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ANGPTL31383AR
APOB13692AD and/or AR
APOE954AD and/or AR and/or Mult
MTTP2685AD and/or AR
ANGPTL8601AR
PCSK92079AD
SAR1B597AR

Informations about the disease

Synonyms
  • Abetalipoproteinemia (MTTP)
  • Chylomicron retention disease (SAR1B)
  • Familial dysbetalipoproteinaemia [panelapp] (APOE)
  • Hypobetalipoproteinemia (APOB)
  • Hypobetalipoproteinemia [literature] (ANGPTL8)
  • Hypobetalipoproteinemia [literature] (PCSK9)
  • Hypobetalipoproteinemia, familial, 2 (ANGPTL3)
  • Plasma triglyceride level QTL, low (ANGPTL4)
  • Allelic: Alzheimer disease 2 (APOE)
  • Allelic: Alzheimer disease, protection against, due to APOE3-Christchurch (APOE)
  • Allelic: Coronary artery disease, severe, susceptibility to (APOE)
  • Allelic: Hypercholesterolemia, familial, 2 (APOB)
  • Allelic: Hypercholesterolemia, familial, 3 (PCSK9)
  • Allelic: Hyperlipoproteinemia, type III (APOE)
  • Allelic: Lipoprotein glomerulopathy (APOE)
  • Allelic: Low density lipoprotein cholesterol level QTL 1 (PCSK9)
  • Allelic: Macular degeneration, age-related (APOE)
  • Allelic: Metabolic syndrome, protection against (MTTP)
  • Allelic: Sea-blue histiocyte disease (APOE)
Heredity, heredity patterns etc.
  • AD
  • AD and/or AR
  • AD and/or AR and/or Mult
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E78.8

Bioinformatics and clinical interpretation

No text defined