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

IllnessHyperlipidemia, combined; differential diagnosis

Summary

Short information

Comprehensive panel for Hyperlipidemia, combined; differential diagnosis, containing 7 guideline-curated core and core candidate genes As well as altogether 12 curated genes according to the clincal suspicion

ID
HP6189
Number of genes
8 Accredited laboratory test
Examined sequence length
10,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
APOA51101NM_052968.5AD, AR
APOC3300NM_000040.3AD
APOE954NM_000041.4AD, AR
GPIHBP1555NM_178172.6AR
LDLR2583NM_000527.5AD
LPL1428NM_000237.3AD, AR
PCSK92079NM_174936.4AD
USF1933NM_007122.5Sus

Informations about the disease

Synonyms
  • Alias: Mixed hyperlipidemia
  • Alias: Rare hyperlipidemia
  • Allelic: Alzheimer disease 2 (APOE)
  • Allelic: Alzheimer disease, protection against, due to APOE3-Christchurch APOE)
  • Allelic: Ezetimibe, nonresponse to (NPC1L1)
  • Allelic: Hypobetalipoproteinemia (APOB)
  • Allelic: Sea-blue histiocyte disease (APOE)
  • Apolipoprotein C-III deficiency (APOC3)
  • Combined hyperlipidemia, familial (LPL)
  • Coronary artery disease, severe, susceptibility to (APOE)
  • Familial combined hyperlipoproteinaemia, inherited mixed hyperlipidaemias [panelapp] (USF1)
  • High density lipoprotein cholesterol level QTL 11 (LPL)
  • Hypercholesterolemia, familial, 1 (LDLR)
  • Hypercholesterolemia, familial, 2 (APOB)
  • Hypercholesterolemia, familial, 3 (PCSK9)
  • Hypercholesterolemia, familial, 4 (LDLRAP1)
  • Hyperchylomicronemia, late-onset (APOA5)
  • Hyperlipidemia, familial combined, susceptibility to (USF1)
  • Hyperlipoproteinemia, type 1D (GPIHBP1)
  • Hyperlipoproteinemia, type III (APOE)
  • Hyperlipoproteinemia, type Ib (APOC2)
  • Hypertriglyceridemia, susceptibility to (APOA5)
  • LDL cholesterol level QTL2 (LDLR)
  • Lipoprotein glomerulopathy (APOE)
  • Lipoprotein lipase deficiency (LPL)
  • Low density lipoprotein cholesterol level QTL 1 (PCSK9)
  • Low density lipoprotein cholesterol level QTL 6 (SORT1)
  • Low density lipoprotein cholesterol level QTL 7 (NPC1L1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E78.2

Bioinformatics and clinical interpretation

No text defined