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

IllnessMyocardial infarction/coronary artery disease, monogenic; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Myocardial infarction, monogenic, containing 11 curated genes

ID
MP7344
Number of loci
Locus typeCount
Gen 6
Accredited laboratory test
Examined sequence length
18,4 kb (Core-/Core-canditate-Genes)
27,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
APOB13692NM_000384.3AD, AR
LDLR2583NM_000527.5AD
PCSK92079NM_174936.4AD
ABCA16786NM_005502.4AR
CYP27A11596NM_000784.4AR
LDLRAP1927NM_015627.3AR

Informations about the disease

Synonyms
  • Alias: Coronary artery disease
  • Alias: Myocardial infarction
  • Allelic: Tooth agenesis, selective, 7 (LRP6)
  • Cerebrotendinous xanthomatosis (CYP27A1)
  • Coronary artery disease, AD, 1 (MEF2A)
  • Coronary artery disease, autosomal dominant, 2 (LRP6)
  • Fish-eye disease (LCAT)
  • HDL deficiency, familial, 1 (ABCA1)
  • Hypercholesterolemia, familial, 1 (LDLR)
  • Hypercholesterolemia, familial, 2 (APOB)
  • Hypercholesterolemia, familial, 3 (PCSK9)
  • Hypercholesterolemia, familial, 4 (LDLRAP1)
  • Hyperlipoproteinemia, type Ib (APOC2)
  • Hypobetalipoproteinemia (APOB)
  • LDL cholesterol level QTL2 (LDLR)
  • Low density lipoprotein cholesterol level QTL (PCSK9)
  • Norum disease (LCAT)
  • Tangier disease (ABCA1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined