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 XI deficiency diagnosis with the identification of known or suspected pathogenic alterations in the F11 gene
Carrier testing for close family members of an individual with a factor XI deficiency diagnosis
This test is not intended for prenatal diagnosis
The gene target for this test is:
Gene name (transcript): F11 (GRCh37 [hg19] NM_000128)
Chromosomal location: 4q35
The clinical workup for factor XI deficiency begins with special coagulation testing for factor XI. See F_11 / Coagulation Factor XI Activity Assay, Plasma.
Genetic testing for factor XI deficiency is indicated if:
-Factor XI activity is reduced (less than 50% of normal)
-Acquired causes of factor XI have been excluded
Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) Followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing When Appropriate