Factor V Leiden Mutation Pcr

Frequently Asked Questions (FAQs)

Factor V Leiden mutation is the most common cause of inherited thrombophilia and accounts for over 90 percent of activated protein C (APC) resistance The test aids in detection of specific gene mutation (G1691A) referred to as Factor V Leiden mutation in Factor V gene in genomic DNA extracted from human whole blood sample / buccal swab A point mutation at position 1691 of the Factor V gene causes an arginine to glutamine substitution at position 506 in the Factor V protein and renders it partially resistant to inactivation by APC DNA test using Real-Time PCR also determines whether the sample is heterozygous or homozygous for the Leiden mutation if present Compared to heterozygotes, homozygotes have a higher thrombotic risk and tend to develop thrombosis at a younger age Test controls are run simultaneously for accurate results Validity and performance of the assay design are evaluated at regular intervals