©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessLipoprotein lipase deficiency, differential diagnosis

Summary

Short information

A curated panel containing 4 guideline-curated genes and altogether 9 genes for the comprehensive analysis of the genetically caused forms of Lipoprotein-Lipase deficiency

ID
LP7688
Number of genes
8 Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Base-Genes)
21,2 kb (Extended panel)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

Next +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
LPL1428AD and/or AR
APOA51101AD
APOB13692AD and/or AR
APOC2306AR
APOE954AD and/or AR and/or Mult
CREB3L31386AD
GPIHBP1555AR
LMF11704AR

Informations about the disease

Synonyms
  • Alias: Chylomikronämie-Syndrom, familiäres
  • Alias: Familial Lipoprotein Lipase Deficiency
  • Allelic: Alzheimer disease 2 (APOE)
  • Allelic: Alzheimer disease, protection against, due to APOE3-Christchurch (APOE)
  • Allelic: Coronary artery disease, severe, susceptibility to (APOE)
  • Allelic: High density lipoprotein cholesterol level QTL 11 (LPL)
  • Allelic: Lipoprotein glomerulopathy (APOE)
  • Allelic: Macular degeneration, age-related (APOE)
  • Allelic: Sea-blue histiocyte disease (APOE)
  • Combined hyperlipidemia, familial (LPL)
  • Hypercholesterolemia, familial, 2 (APOB)
  • Hyperchylomicronemia, late-onset (APOA5)
  • Hyperlipoproteinemia, type ID (GPIHBP1)
  • Hyperlipoproteinemia, type III (APOE)
  • Hyperlipoproteinemia, type Ib (APOC2)
  • Hypertriglyceridemia, susceptibility to (APOA5)
  • Hypertriglyceridemia, transient infantile (GPD1)
  • Hypobetalipoproteinemia (APOB)
  • Lipase deficiency, combined (LMF1)
  • Lipoprotein lipase deficiency (LPL)
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.-

Bioinformatics and clinical interpretation

No text defined