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GTR Home > Tests > BRCA 1 and BRCA2 Gene Sequencing

Overview

Test order codeHelp: 003057

Test name

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BRCA 1 and BRCA2 Gene Sequencing

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-implantation genetic diagnosis, Pre-symptomatic, Predictive, Prognostic, Risk Assessment, Screening

Condition

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Click Indication tab for more information.

How to order

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Sent requisition form and informed consent.
Order URL Help: http://www.genetix.com.co/

Specimen source

Amniocytes
Amniotic fluid
Cell culture
Chorionic villi
Fresh tissue
Isolated DNA
Peripheral (whole) blood
Specimen requirements: http://www.genetix.com.co/

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • ABI3700XL
  • None/not applicable

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations

Clinical validity

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Sequencing has 9O%

Citations

Testing strategy

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PCR and bidirectional sequencing 000 Sent requisition form and informed consent.

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Genetic counseling
  • Preimplantation Genetic Diagnosis (PGD)
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Clinical resources

Practice guidelines

  • NICE, 2023
    UK NICE Clinical Guideline CG164, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer, 2023

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.