亚博棋牌

Test Id :SLC1Q

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

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Overview

亚博棋牌

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

确定潜在的他汀类药物脂质降低反应，尤其是在使用pravastatin时

Genetics Test Information
提供可能有助于选择正确的基因测试或正确提交测试请求的信息

This is a pharmacogenomics test forRS4149056的基因型（C.521T> c）在 *5， *15和 *17等位基因中找到的变体，以及 *17和 *21等位基因中的RS4149015（C.-910G> a）. Presence of the *5 allele is associated with an increased risk for simvastatin-associated myopathy.

Special Instructions
PDF库，包括与测试相关的相关信息和表格

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

实时聚合酶链反应（PCR），具有等位基因歧视分析

NY State Available
指示纽约州批准的状态以及纽约州客户的测试是否可订购。

Yes

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

SLCO1B1Genotype, V

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

OATP1B1

Simvastatin

SLCO1B1

Statin

标本类型
描述了测试验证的样品类型

Varies

订购指导

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:CYPs1A2, 2C9, 2C19, 2D6, 3A4, 3A5, 4F2, SLCO1B1,和VKORC1. Order PGXQP / Focused Pharmacogenomics Panel, Varies if multiple pharmacogenomic genotype testing is desired.

需要标本
定义执行测试所需的最佳标本和首选卷以完成测试

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

Submit only 1 of the following specimens:

样品类型：全血

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

样品类型：Saliva

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

补给品：Saliva Swab Collection Kit (T786)

Specimen Volume:1个拭子

Collection Instructions:Collect and send specimen per kit instructions.

Specimen Stability Information:Ambient 30 days

标本类型: Extracted DNA

Container/Tube: 2 mL screw top tube

SpecimenVolume：100 MCL（微型亮片）

Collection Instructions:

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

2.包括管子上的浓度和体积。

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

Special Instructions
PDF库，包括与测试相关的相关信息和表格

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:

-遗传测试的知情同意(T576)

-遗传测试的知情同意-Spanish(T826)

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

-心血管测试请求（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

拒绝
Identifies specimen types and conditions that may cause the specimen to be rejected

所有标本将在Mayo Clinic Laboratories进行测试适yabo208用性评估。

Specimen Stability Information
提供了将样品运输到表演实验室所需的温度的描述，还包括可接受的温度

标本类型 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

确定潜在的他汀类药物脂质降低反应，尤其是在使用pravastatin时

Genetics Test Information
提供可能有助于选择正确的基因测试或正确提交测试请求的信息

This is a pharmacogenomics test forRS4149056的基因型（C.521T> c）在 *5， *15和 *17等位基因中找到的变体，以及 *17和 *21等位基因中的RS4149015（C.-910G> a）. Presence of the *5 allele is associated with an increased risk for simvastatin-associated myopathy.

Clinical Information
讨论与实验室测试有关的生理学，病理生理学和一般临床方面

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.

SLCO1B1encodes 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)

SLCO1B1rs4149056 (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 ofSLCO1B1c.521T>Cwith 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 theSLCO1B1c.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 theSLCO1B1genotype and myopathy with statins other than simvastatin.(2)

SLCO1B1rs4149015 (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.

频率SLCO1B1等位基因在不同的种族和族裔群体中各不相同。

参考值
描述参考间隔和其他信息，以解释测试结果。可能会在适当的情况下包括基于年龄和性别的间隔。除非另有指定，否则间隔是梅奥衍生的。如果提供了解释性报告，则参考值字段将陈述。

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, seePharmacogenomic Associations Tables在特殊说明中。该资源还包括有关酶抑制剂和诱导剂的信息，以及潜在的替代药物选择。

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.SLCO1B1genetic test results in patients who have undergone liver transplantation may not accurately reflect the patient'sSLCO1B1status.

Simvastatin-related myopathy can occur in the absence ofSLCO1B1c.521T>C.

存在SLCO1B1c.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.

临床参考
深入阅读临床性质的建议

1。Wilke RA，Lin DW，Roden DM等人：确定严重不良药物反应的遗传危险因素：当前的进展和挑战[已发表的校正出现在NAT Rev Drug Discov中。2008年2月; 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.搜索协作小组，Link E，Parish S等人：SLCO1B1变体和他汀类药物诱导的肌病 - 一项全基因组研究。N Engl J Med。2008; 359（8）：789-799。doi：10.1056/nejmoa0801936

Special Instructions
PDF库，包括与测试相关的相关信息和表格

Method Description
描述如何执行测试并提供特定于方法的参考

Genomic DNA is extracted from whole blood or saliva. Genotyping forSLCO1B1使用基于聚合酶链反应（PCR）的5'-核酸酶测定法进行等位基因。荧光标记为靶DNA的检测探针退火。PCR用于放大包含变体的DNA截面。如果检测探针与靶DNA完全匹配，则5'-核酸酶聚合酶降解了探针，报告者染料从淬灭剂染料的作用中释放出来，并检测到荧光信号。基因型是根据检测到的等位基因特异性荧光信号分配的。（指令手册：TaqMan SNP Genotyping AssayUser 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

不

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
时间间隔（在Mayo Clinic Laboratories接收样品以可用的结果）考虑yabo208到标准的设置日和周末。第一天是结果通常需要的时间。最后一天是它可能需要的时间，考虑到任何必要的重复测试。

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

费用
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.

  • 授权用户可以登录Test Pricesfor detailed fee information.
  • Clients without access to Test Prices can contact亚搏每周7天，每天24小时。
  • Prospective clients should contact their Regional Manager. For assistance, contact亚搏.

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
为确定该测试的顺序和结果代码的逻辑观察标识符名称和代码（LOINC）值提供指导。LOINC值由表演实验室提供。

Test Id Test Order Name Order LOINC Value
SLC1Q SLCO1B1Genotype, V 93412-5
Result Id 测试结果名称 Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
610152 SLCO1B1Genotype 93412-5
610153 SLCO1B1Phenotype 79722-5
610154 Interpretation 69047-9
610155 附加信息 48767-8
610156 Method 85069-3
610157 Disclaimer 62364-5
610158 Reviewed by 18771-6

测试设置资源

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

Excel|创建一个PDF

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

不rmal Reports|异常报告

SI Sample Reports
为有限数量的测试提供了单位报告的国际系统（SI）。这些报告旨在用于国际帐户使用，只能通过定义为接收它们的Mayolink帐户提供。

SI Normal Reports|SI Abnormal Reports