Test Catalog

Test Id : SLC1Q

Solute Carrier Organic Anion Transporter Family Member 1B1 (SLCO1B1) Genotype, Statin, Varies

Useful For
Suggests clinical disorders or settings where the test may be helpful

Predicting risk for statin-associated myopathy in patients beginning statin therapy, especially simvastatin therapy

 

Determining a potential statin lipid lowering response, especially when using pravastatin

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

This is a pharmacogenomics test for genotype for the rs4149056 (c.521T>C) variant found in the *5, *15, and *17 alleles, and rs4149015 (c.-910G>A) found in the *17 and *21 alleles. Presence of the *5 allele is associated with an increased risk for simvastatin-associated myopathy.

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Name
A short description of the method used to perform the test

Real-Time Polymerase Chain Reaction (PCR) with Allelic Discrimination Analysis

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

SLCO1B1 Genotype, V

Aliases
Lists additional common names for a test, as an aid in searching

OATP1B1

Simvastatin

SLCO1B1

Statin

Specimen Type
Describes the specimen type validated for testing

Varies

Ordering Guidance

Testing is available as the single gene assay (this test) or as a part of a focused pharmacogenomics panel, which includes testing for the following genes: CYPs 1A2, 2C9, 2C19, 2D6, 3A4, 3A5, 4F2, SLCO1B1, and VKORC1. Order PGXQP / Focused Pharmacogenomics Panel, Varies if multiple pharmacogenomic genotype testing is desired.

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Multiple genotype tests can be performed on a single specimen after a single extraction. See Multiple Genotype Test List in Special Instructions for a list of tests that can be ordered together.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred) 9 days/Refrigerated 30 days

 

Specimen Type: Saliva

Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Supplies: Saliva Swab Collection Kit (T786)

Specimen Volume: 1 swab

Collection Instructions: Collect and send specimen per kit instructions.

Specimen Stability Information: Ambient 30 days

 

Specimen Type: Extracted DNA

Container/Tube: 2 mL screw top tube

Specimen Volume: 100 mcL (microliters)

Collection Instructions:

1. The preferred volume is 100 mcL at a concentration of 50 ng/mcL.

2. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred)/Ambient/Refrigerated

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Cardiovascular Test Request (T724)

-Therapeutics Test Request (T831)

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Blood: 0.4 mL

Saliva: 1 swab

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Varies Varies (preferred)

Useful For
Suggests clinical disorders or settings where the test may be helpful

Predicting risk for statin-associated myopathy in patients beginning statin therapy, especially simvastatin therapy

 

Determining a potential statin lipid lowering response, especially when using pravastatin

Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request

This is a pharmacogenomics test for genotype for the rs4149056 (c.521T>C) variant found in the *5, *15, and *17 alleles, and rs4149015 (c.-910G>A) found in the *17 and *21 alleles. Presence of the *5 allele is associated with an increased risk for simvastatin-associated myopathy.

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

The most common adverse drug reaction associated with statins is skeletal muscle toxicity, which can include myalgia (with and without elevated creatine kinase levels), muscle weakness, muscle cramps, myositis, and rhabdomyolysis.(1) Rhabdomyolysis, while rare, is of clinical concern because of the risk for death as a result of cardiac arrhythmia, renal failure, and disseminated intravascular coagulation. While the underlying causes of statin-associated myopathy are not known, several hypotheses have been formulated, including those related to the biochemical pathway of cholesterol synthesis inhibition and statin metabolism.

 

SLCO1B1 encodes the organic anion-transporting polypeptide 1B1 (OATP1B1) influx transporter located on the basolateral membrane of hepatocytes. OATP1B1 facilitates the hepatic uptake of statins as well as other endogenous compounds (eg, bilirubin). Changes in the activity of this transporter (eg, through genetic variations or drug-drug interactions) can increase the severity of statin-associated myopathy (ie, statin intolerance).(2)

 

SLCO1B1 rs4149056 (c.521T>C, p.V174A), which is found in *5, *15, and *17, interferes with localization of the transporter to the plasma membrane and can lead to increased systemic statin concentrations.(3-4) All statins are substrates of OATP1B1, but the association of SLCO1B1 c.521T>C with statin intolerance varies depending on statin and dose and is most pronounced with higher doses of simvastatin therapy. A case-control study of simvastatin-induced myopathy observed an odds ratio (OR) for myopathy of 4.5 for *5 heterozygotes and 16.9 for *5 homozygotes (compared to individuals who did not carry *5) among patients receiving high-dose (80 mg/day) simvastatin therapy.(4) A dose relationship was also demonstrated in a replication cohort of patients taking 40 mg/day simvastatin with a relative risk of 2.6 per copy of the *5 allele. While the SLCO1B1 c.521T>C genotype has also been shown to affect systemic exposure of other statins (eg, atorvastatin, pravastatin, rosuvastatin) in addition to simvastatin,(3) there is less evidence demonstrating a clinical association between the SLCO1B1 genotype and myopathy with statins other than simvastatin.(2)

 

SLCO1B1 rs4149015 (c.-910G>A), which is found in *17 and *21, is associated with increased pravastatin blood levels and a reduced lipid lowering effect but has not been associated with statin-induced myopathy or rhabdomyolysis. 

 

Frequency of the SLCO1B1 alleles varies across different racial and ethnic groups.

Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

An interpretive report will be provided. The complementary DNA positions are based on NM_006446.4.

 

For additional information regarding pharmacogenomic genes and their associated drugs, see Pharmacogenomic Associations Tables in Special Instructions. This resource also includes information regarding enzyme inhibitors and inducers, as well as potential alternate drug choices.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Rare variants may be present that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings (phenotype), additional testing should be considered.

 

Samples may contain donor DNA if obtained from patients who received non-leukoreduced blood transfusions or allogeneic hematopoietic stem cell transplantation. Results from samples obtained under these circumstances may not accurately reflect the recipient's genotype. For individuals who have received blood transfusions, the genotype usually reverts to that of the recipient within 6 weeks. For individuals who have received allogeneic hematopoietic stem cell transplantation, a pretransplant DNA specimen is recommended for testing. SLCO1B1 genetic test results in patients who have undergone liver transplantation may not accurately reflect the patient's SLCO1B1 status.

 

Simvastatin-related myopathy can occur in the absence of SLCO1B1 c.521T>C.

 

The presence of SLCO1B1 c.521T>C does not confer absolute risk for simvastatin-associated myopathy.

 

Absence of a variant allele does not rule out the possibility that a patient harbors another variant that can impact medication efficacy and side effects.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. Wilke RA, Lin DW, Roden DM, et al: Identifying genetic risk factors for serious adverse drug reactions: current progress and challenges [published correction appears in Nat Rev Drug Discov. 2008 Feb;7(2):185]. Nat Rev Drug Discov. 2007;6(11):904-916. doi: 10.1038/nrd2423

2. Ramsey LB, Johnson SG, Caudle KE, et al: The clinical pharmacogenetics implementation consortium guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update. Clin Pharmacol Ther. 2014;96(4):423-428. doi: 10.1038/clpt.2014.125

3. Niemi M. Transporter pharmacogenetics and statin toxicity: Clin Pharmacol Ther. 2010;87(1):130-133. doi: 10.1038/clpt.2009.197

4. SEARCH Collaborative Group, Link E, Parish S, et al: SLCO1B1 variants and statin-induced myopathy--a genomewide study. N Engl J Med. 2008;359(8):789-799. doi: 10.1056/NEJMoa0801936

Special Instructions
Library of PDFs including pertinent information and forms related to the test

Method Description
Describes how the test is performed and provides a method-specific reference

Genomic DNA is extracted from whole blood or saliva. Genotyping for SLCO1B1 alleles is performed using a polymerase chain reaction (PCR)-based 5'-nuclease assay. Fluorescently labeled detection probes anneal to the target DNA. PCR is used to amplify the section of DNA that contains the variant. If the detection probe is an exact match to the target DNA, the 5'-nuclease polymerase degrades the probe, the reporter dye is released from the effects of the quencher dye, and a fluorescent signal is detected. A genotype is assigned based on the allele-specific fluorescent signals that are detected.(Instruction manual: TaqMan SNP Genotyping Assay User Guide. Applied Biosystems; Revision A.0 01/2014)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday through Friday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

3 to 8 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Whole Blood/Saliva swab: 2 weeks; Extracted DNA: 2 months

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

81328

LOINC® Information

Test Id Test Order Name Order LOINC Value
SLC1Q SLCO1B1 Genotype, V 93412-5
Result Id Test Result Name Result LOINC Value
Result LOINC Value Tooltip
610152 SLCO1B1 Genotype 93412-5
610153 SLCO1B1 Phenotype 79722-5
610154 Interpretation 69047-9
610155 Additional Information 48767-8
610156 Method 85069-3
610157 Disclaimer 62364-5
610158 Reviewed by 18771-6

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports