Deutsch
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-/Core-canditate-Genes)
22,0 kb (Extended panel: incl. additional genes)
22,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
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
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E78.8
Bioinformatics and clinical interpretation
No text defined