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

IllnessHypercholesterolaemia, familial; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for familial Hypercholesterolemia comprising 3 genes guideline-curated genes, 6 additional genes cited from different international guidelines and altogether 11 curated genes according to the clinical signs

ID
HP0390
Number of genes
12 Accredited laboratory test
Examined sequence length
27,1 kb (Core-/Core-canditate-Genes)
29,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + SNP

[Sanger}

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ABCG51956NM_022436.3AR
ABCG82022NM_022437.3AR
APOB13692NM_000384.3AD
APOE954NM_000041.4AD, AR
CYP27A11596NM_000784.4AR
LDLR2583NM_000527.5AD
LDLRAP1927NM_015627.3AR
LIPA1200NM_000235.4AR
PCSK92079NM_174936.4AD
APOA1804NM_000039.3n.k.
APOC3300NM_000040.3AD
DHCR71428NM_001360.3AR

Informations about the disease

Clinical Comment

Familial hypercholesterolaemia (FH) is characterised by highly elevated levels of LDL cholesterol (LDL-C), which at a young age leads to the deposition of atherosclerotic plaques in the coronary arteries and proximal aorta, resulting in an increased risk of cardiovascular disease. 70 to 95% of cases result from a heterozygous pathogenic variant in one of three genes (APOB, LDLR, PCSK9). Homozygous FH results from biallelic (homozygous or compound heterozygous) pathogenic variants in one of these genes (APOB, LDLR, PCSK9). Most patients with homozygous FH already suffer from severe CHD in their mid-20s.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK174884/

 

Synonyms
  • Allelic: Alzheimer disease 2 (APOE)
  • Allelic: Alzheimer disease, protection against, due to APOE3-Christchurch (APOE)
  • Allelic: Amyloidosis, 3 or more types (APOA1)
  • Allelic: Coronary artery disease, severe, susceptibility to (APOE)
  • Allelic: Gallbladder disease 4 (ABCG8)
  • Allelic: Growth hormone insensitivity, partial (GHR)
  • Allelic: High density lipoprotein cholesterol level QTL 11 (LPL)
  • Allelic: Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding (APOA1)
  • Allelic: Increased responsiveness to growth hormone (GHR)
  • Allelic: LDL cholesterol level QTL2 (LDLR)
  • Allelic: Laron dwarfism (GHR)
  • Allelic: Lipoprotein glomerulopathy (APOE)
  • Allelic: Lipoprotein lipase deficiency (LPL)
  • Allelic: Low density lipoprotein cholesterol level QTL 1 (PCSK9)
  • Allelic: Macular degeneration, age-related (APOE)
  • Allelic: Sea-blue histiocyte disease (APOE)
  • ApoA-I + apoC-III deficiency, combined (APOA1)
  • Apolipoprotein C-III deficiency (APOC3)
  • Cerebrotendinous xanthomatosis (CYP27A1)
  • Cholesteryl ester storage disease (LIPA)
  • Combined hyperlipidemia, familial (LPL)
  • Hypercholesterolemia [panelapp] (STAP1)
  • Hypercholesterolemia, familial, 1 (LDLR)
  • Hypercholesterolemia, familial, 2 (APOB)
  • Hypercholesterolemia, familial, 3 (PCSK9)
  • Hypercholesterolemia, familial, 4 (LDLRAP1)
  • Hypercholesterolemia, familial, modifier of (GHR)
  • Hyperlipidemia, familial combined, susceptibility to (USF1)
  • Hyperlipoproteinemia, type III (APOE)
  • Hypobetalipoproteinemia (APOB)
  • Sitosterolemia 1 (ABCG8)
  • Sitosterolemia 2 (ABCG5)
  • Wolman disease (LIPA)
Heredity, heredity patterns etc.
  • AD
  • AR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined