GTR Home > Tests > BRCA1 y BRCA2 Perfil Colombia

Overview

Test name

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BRCA1 y BRCA2 Perfil Colombia

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic

Condition

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2 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

2 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Go to IRALABS webpage (www.iralabs.com) and follow the corresponding instructions
Order URL Help: http://www.iralabs.com/

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom mutation-specific/Carrier testing

Suggested reading

  • Phillips et al., 2013
    Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.
  • Domchek et al., 2010
    Association of Risk-Reducing Surgery in BRCA1 or BRCA2 Mutation Carriers with Cancer Risk and Mortality

Practice guidelines

  • ACMG, 2016
    Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
  • ACMG, 2015
    ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
  • ACMG/NSGC, 2015
    A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
  • ASCO, 2014
    American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
  • USPSTF, 2014
    Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.
  • USPSTF, 2014
    Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.
  • USPSTF, 2013
    Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Systematic Review to Update the U.S. Preventive Services Task Force Recommendation
  • ACMG, 2013
    ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
  • NCCN, 2013
    National Comprehensive Cancer Network practice guidelines in oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian
  • NSGC, 2013
    NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer.
  • ASCO, 2010
    American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.
  • ACOG, 2009
    ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome.
  • NSGC, 2007
    Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.
  • ACS, 2007
    American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
  • NSGC, 2004
    Genetic cancer risk assessment and counseling: recommendations of the National Society of Genetic Counselors.

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