Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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Genetic confirmation of a factor X deficiency diagnosis with the identification of a known or suspected pathogenic alterations in the F10 gene
Carrier testing for close family members of an individual with a factor X deficiency diagnosis
This test is not intended for prenatal diagnosis.
This test detects pathogenic alterations within the F10 gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of factor X deficiency (FXD), a rare bleeding disorder.
The gene target for this test is:
Gene name (transcript): F10 (GRCh 37 [hg19] NM_000504)
Chromosomal location: 13q34
The clinical workup for factor X deficiency (F10D) begins with special coagulation testing for factor X. See F_10 / Coagulation Factor X Activity Assay, Plasma.
Genetic testing for F10D is indicated if:
-Factor X clotting activity is reduced (less than 80% of normal)
-Acquired causes of factor X deficiency have been excluded (eg, liver disease, warfarin therapy, vitamin K deficiency, systemic amyloidosis, and inhibitors)
Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate