Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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Ascertaining a causative alteration in F2 and the affected region of prothrombin protein in an individual clinically diagnosed with factor II deficiency
Carrier testing for close family members of an individual with a factor II deficiency diagnosis
This test is not intended for prenatal diagnosis.
This test detects pathogenic alterations in the F2 gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of factor II (prothrombin) deficiency (F2D).
The gene target for this test is:
Gene name (transcript): F2 (GRCh37 [hg19] NM_000506)
Chromosomal location: 11p11.2
The clinical workup for factor II deficiency (F2D) begins with special coagulation testing for factor II. See F_2 / Coagulation Factor II Activity Assay, Plasma.
Genetic testing for F2D is indicated if:
-Prothrombin (factor II) activity is reduced (less than 80% of normal)
-Acquired causes of factor II deficiency have been excluded (eg, vitamin K deficiency, warfarin anticoagulation use, liver disease, etc)
Prothrombin antigen testing, to distinguish between type I and type II deficiencies, may be helpful in cases where genetic testing results yield variants of uncertain significance.
Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate