U.S. flag

An official website of the United States government

GTR Home > Tests > Genetic Study of Hereditary Thrombophilia (11 genes, 15 variants)

Overview

Test order codeHelp: Genetic study of Hereditary Thrombophilia

Test name

Help

Genetic Study of Hereditary Thrombophilia (11 genes, 15 variants) (TromboGene)

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Risk Assessment, Screening, Therapeutic management

Condition

Help

Loading data ......

Click Indication tab for more information.

How to order

Help

Order URL Help: https://www.heartgenetics.com/genetic-services/cardiovascular-genetics/order-a-test-cardiovascular/

Specimen source

Buccal swab
Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

Help
Molecular Genetics
ESequence analysis of select exons
High Resolution Melting
  • Other
TTargeted variant analysis
Allele-specific primer extension (ASPE)
  • MassARRAY® System by Agena Bioscience
  • Other

Summary of what is tested

Loading data ......

Click Methodology tab for more information.

Clinical utility

Help

Establish or confirm diagnosis

Guidance for management

Clinical validity

Help

Not provided

Test services

Help
  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: TromboGene
  • Custom mutation-specific/Carrier testing, Order code: TromboGene

Practice guidelines

  • NICE, 2020
    UK NICE Guideline NG158, Venous thromboembolic diseases: diagnosis, management and thrombophilia testing, 2020

Consumer resources

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.