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GTR Home > Tests > F5 Gene, Full Gene Next-Generation Sequencing



Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina HiSeq 2500

Test development


Test developed by laboratory (no manufacturer test name)

Test procedure


Next-generation sequencing and/or Sanger sequencing are performed. Regions of homology, high guanine-cytosine (GC)-rich content, and repetitive sequences may not provide accurate sequence. Therefore, all reported alterations detected by next-generation sequencing in these regions are confirmed by an independent reference method. However, this does not rule out the possibility of a false-negative result in these regions.


Not provided

Confirmation of results


Positive results are confirmed when appropriate.

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Suggested reading

  • ACMG, 2021
    Addendum: American College of Medical Genetics consensus statement on factor V Leiden mutation testing

Clinical resources

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.