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

IllnessLipoprotein lipase deficiency, differential diagnosis


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

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

Next +


Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
LPL1428NM_000237.3AD, AR
APOA51101NM_052968.5AD, AR
APOB13692NM_000384.3AD, AR
APOE954NM_000041.4AD, AR

Informations about the disease

Clinical Comment

illness_ClinicalComment_ LP7688


  • Alias: Burger-Grutz syndrome
  • Alias: Chylomikronämie-Syndrom, familiäres
  • Alias: Endogenous hypertriglyceridaemia
  • Alias: Familial LPL deficiency
  • Alias: Familial Lipoprotein Lipase Deficiency
  • Alias: Familial chylomicromenia [syndrome]
  • Alias: Familial fat-induced hypertriglyceridemia
  • Alias: Familial hyperchylomicronemia
  • Alias: Hyperlipoproteinemia type I
  • Alias: Hyperlipoproteinemia type Ia
  • Alias: LIPD deficiency
  • Alias: Lipase D deficiency
  • Alias: Lipoprotein lipase deficiency, familial
  • 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 2 (CREB3L3)
  • Hypertriglyceridemia, susceptibility to (APOA5)
  • Hypertriglyceridemia, transient infantile (GPD1)
  • Hypobetalipoproteinemia (APOB)
  • Lipase deficiency, combined (LMF1)
  • Lipoprotein lipase deficiency (LPL)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined