Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
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Genetic confirmation of a factor VII deficiency diagnosis with the identification of a known or suspected pathogenic alteration in the F7 gene
Carrier testing for close family members of an individual with a factor VII deficiency diagnosis
This test is not useful for prenatal diagnosis.
This test detects pathogenic alterations in the F7 gene to delineate the underlying molecular defect in a patient with a laboratory diagnosis of Factor VII deficiency (F7D), a rare bleeding disorder.
The gene target for this test is:
Gene name (transcript): F7 (GRCh37 [hg19] NM_000131)
Chromosomal location: 13q34
The clinical workup for factor VII deficiency (F7D) begins with coagulation testing consisting of coagulation factor VII assay (see F_7 / Coagulation Factor VII Activity Assay, Plasma).
Genetic testing for F7D is indicated if:
-Factor VII activity is reduced (less than 65% of normal)
-Acquired causes of FVII deficiency have been excluded
Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) Followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate