GTR Home > Tests > Thrombophilia Mutation Panel

Overview

Test order codeHelp: 6062

Test name

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Thrombophilia Mutation Panel

Purpose of the test

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

Condition

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11 conditions tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
TTargeted variant analysis
SNP Detection

Summary of what is tested

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

Genes

  • Gene: F2 (11p11.2)
  • Gene: F5 (1q24.2)
  • Gene: MTHFR (1p36.22)

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Not provided

Practice guidelines

  • EGAPP, 2011
    Recommendations from the EGAPP Working Group: routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members.
  • ACMG, 2001
    American College of Medical Genetics consensus statement on factor V Leiden mutation testing.

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