Solute Carrier Organic Anion Transporter Family Member 1B1 (SLCO1B1) Genotype, Statin, Varies
Use
This test is useful for predicting the risk for statin-associated myopathy in patients beginning statin therapy, especially simvastatin therapy. Statin-associated myopathy can range from myalgia to severe rhabdomyolysis, and the presence of the RS4149056 (c.521T>C) variant in the SLCO1B1 gene is associated with an increased risk of this adverse effect. The SLCO1B1 gene encodes an important hepatic influx transporter that modulates the uptake of statins, and genetic variations may interfere with this function, leading to elevated systemic concentrations of statins.
Special Instructions
Not provided.
Limitations
Results should be interpreted with caution as rare genetic variants may not be detectable by this test, potentially leading to false-negative or false-positive results. In cases where test results do not correspond with clinical findings, further testing may be necessary. The presence of the SLCO1B1 c.521T>C variant does not confer absolute risk for statin-associated myopathy, and absence of the variant does not rule out other genetic factors influencing statin response.
New York Approved
Methodology
PCR-based (qPCR)
Biomarkers
SLCO1B1
Gene
LOINC Codes
- 93412-5 - SLCO1B1 Mut Anl Bld/T
- 93412-5 - SLCO1B1 Mut Anl Bld/T
- 79722-5 - SLCO1B1 gene prod funct imp Bld/T
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 62364-5 - Test performance info Spec
- 18771-6 - Provider signing name
Result Turnaround Time
3-8 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |