Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
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Detecting the pathogenic alterations within the F13A1 and F13B genes to delineate the underlying molecular defect in a patient with a laboratory diagnosis of factor XIII deficiency
Genetic confirmation of hereditary factor XIII deficiency with the identification of an alteration in either the F13A1 or F13B gene known or suspected to cause the condition
Testing for close family members of an individual with a factor XIII deficiency diagnosis
This test is not useful for prenatal diagnosis
The gene targets for this test are:
Gene name (transcript): F13A1 (GRCh37 [hg19] NM_000129)
Chromosomal location: 6p24-p25
Gene name (transcript): F13B (GRCh37 [hg19] NM_001994)
Chromosomal location: 1q31-q32.1
A standard testing algorithm for factor 13 deficiency (FXIIID) has been developed by the Scientific and Standardization Committee of the International Society for Thrombosis and Haemostasis (ISTH).(1)
Genetic testing for factor XIII deficiency is indicated if:
-Factor XIII activity (FXIII) is reduced on a qualitative functional FXIII activity test
-Acquired causes of factor XIII deficiency have been excluded
Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) Followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing When Appropriate