Test Catalog

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

Useful For Suggests clinical disorders or settings where the test may be helpful

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.

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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).

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

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

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

F5 Gene, Full Gene NGS

Aliases Lists additional common names for a test, as an aid in searching

Factor V deficiency
Labile factor deficiency
Thrombophilia due to activated protein C resistance