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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)
21,2 kb (Extended panel)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
Next +
Gene panel
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