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GTR Home > Tests > Factor V Leiden Thrombophilia

Overview

Test name

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Factor V Leiden Thrombophilia

Purpose of the test

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

Condition

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Click Indication tab for more information.

How to order

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Not provided

Specimen source

Amniocytes
Amniotic fluid
Bone marrow
Buccal swab
Cell-free DNA
Cerebrospinal fluid
Chorionic villi
Cord blood
Cystic hygroma fluid
Dried blood spot (DBS) card
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Paraffin block
Peripheral (whole) blood
Skin
White blood cell prep
Specimen requirements: http://www.firmalab.com

Methodology

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Molecular Genetics
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Practice guidelines

  • NICE, 2023
    UK NICE Guideline NG158, Venous thromboembolic diseases: diagnosis, management and thrombophilia testing, 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.