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

Summary

Short information

Comprehensive differential diagnostic panel for Statin toxicity containing 2 core candidate genes and altogether 6 curated genes according to the clinical signs

ID
SP4222
Number of genes
5 Accredited laboratory test
Examined sequence length
2,1 kb (Core-/Core-canditate-Genes)
15,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
SLCO1B12076NM_006446.5digenisch, AR
ABCB13843NM_000927.5Resistenz
ABCC24638NM_000392.5AR
ABCG21836NM_001257386.2Resistenz
HMGCR2667NM_000859.3Mult

Informations about the disease

Clinical Comment

Statins are prescribed to lower cholesterol. In spite of wide-spread use, discontinuation and nonadherence cause gaps in the prevention of atherosclerotic cardiovascular disease. Major reasons are statin-associated muscle symptoms and other statin-induced side effects, like new-onset of type 2 diabetes mellitus, neurological/neurocognitive effects, hepato- and renal toxicity.

 

Synonyms
  • Colchicine resistance (ABCB1)
  • Hyperbilirubinemia, Rotor type, digenic (SLCO1B1)
  • Inflammatory bowel disease 13 (ABCB1)
  • Low density lipoprotein cholesterol level QTL 3 (HMGCR)
  • Statins, attenuated cholesterol lowering by (HMGCR)
  • Uric acid concentration, serum, QTL1 (ABCG2)
  • [Statin intolerance + statin-induced myalgia; lit.] (LILRB5)
Heredity, heredity patterns etc.
  • AR
  • Mult
  • Resistenz
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined