Associated disorders

The F5 gene is associated with factor V Leiden thrombophila (MedGen UID: 396074) and factor V deficiency (MedGen UID: 4633).

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F5: Analysis is limited to the Factor V Leiden variant

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Invitae tests that include this gene:

The F5 gene is the only known gene to cause factor V Leiden thrombophilia. An estimated 15%-20% of individuals with a history of thrombosis will have a pathogenic variant identified in F5.

The F5 gene encodes the coagulation factor V protein, which is activated by thrombin during the coagulation pathway involved in stopping blood loss.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
F5* NM_000130.4

*F5: Analysis is limited to the Factor V Leiden variant