Eurofins Biomnis code

F5L

Synonyms

• OMIM code : *612309
• R506Q mutation
• V Leiden mutation
• 1691G>A mutation

Specialty

Genetics

Clinical significance

Activated Protein C Resistance (APCR, also referred to as Factor V Leiden) is an important risk factor for familial thrombophilia. This phenomenon is found in 15 to 25% of subjects with a history of venous thromboembolism and in 2 to 7% of the population as a whole. In 90 to 95% of cases, this abnormality is associated with a specific mutation in the gene encoding Factor V (a Gln to Arg transition at position 1691 - Arg506Gln); the mutant Factor V (also referred to as Factor V Leiden) is resistant to inactivation by Protein C. There are currently two different modalities for diagnosing this condition. The first is a functional test based on detecting a prolonged Activated Partial Thromboplastin Time after addition of activated Protein C with Factor V-deficient plasma and a heparin inhibitor. The second is based on molecular genetic methods to detect the actual mutation in the subject's genome.

Preanalytics

• 5 mL :
• Whole blood EDTA (only), do not use tubes containing beads.
•   Ambient temperature

• A tube specifically for this analysis : No

Further information

According to regulation, each request must ALWAYS be accompanied by a consent form signed by the patient and the prescribing pathologist
Sample must be refrigerated if transport is > 48 hours
Enclose the specific B12-INTGB request form: Molecular Genetics

Documents to download

• Specific Request Form (B12-INTGB)
• Attestation-Consent(D43-INTGB)

Methodology

LAMP PCR

Turnaround time

5 days