Test ID: F5NGS    
F5 Gene, Next-Generation Sequencing, Varies

Genetic confirmation of factor V deficiency with the identification of an alteration in the F5 gene known or suspected to cause the condition

Carrier testing for close family members of an individual with a factor V deficiency diagnosis

This test is not intended to evaluate for the factor V Leiden mutation.

This test is not intended for prenatal diagnosis.

This test detects pathogenic alterations in the F5 gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of coagulation factor V deficiency. This test may also detect rare alterations in F5 that cause activated protein C (APC) resistance, resulting in thrombophilia.

The gene target for this test is:

Gene name (transcript): F5 (GRCh37 [hg19] NM_000130)

Chromosomal location: 1q23-24

If the patient appears to have a bleeding disorder, the clinical workup for factor V deficiency (F5D) begins with special coagulation testing for factor V activity. See FACTV / Coagulation Factor V Activity Assay, Plasma.

Genetic testing for F5D is indicated if:

-Factor V activity is reduced and acquired causes of FV deficiency have been excluded

-The FVIII activity is normal (low factor V levels with concurrently low factor VIII levels suggest combined deficiency of factor V and FVIII [F5F8D], a condition with a genetic etiology different from that of F5D)

If the patient appears to have thrombophilia, the results of an activated protein C (APC) resistance assay indicate presence of resistance to APC, and factor V Leiden genotype does not correlate with the severity of thrombophilia or clinical presentation, full-gene sequencing of F5 may be warranted. If testing for factor V Leiden is desired instead of full-gene sequencing, please order "Factor V Leiden (R506Q) Mutation, Blood" (Mayo test ID F5DNA).

• Informed Consent for Genetic Testing
• Informed Consent for Genetic Testing (Spanish)
• Rare Coagulation Disorder Patient Information

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate