Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation, Blood

Casandra

Casandra Test Code MC73000Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID F81BCPT Code 81403

Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation, Blood

Clinical Use

Use

This test is used for first-tier molecular testing for male patients affected with severe hemophilia A, particularly when a familial intron 1 inversion has been previously identified. It is also utilized for determining hemophilia A carrier status among at-risk female patients, such as those with a family history of severe hemophilia A due to F8 intron 1 inversion. The test detects the intron 1 inversion in the F8 gene, which accounts for approximately 5% of the variants associated with severe hemophilia A.

Special Instructions

For individuals when an intron 1 inversion has already been identified in the family, the intron 1 inversion known variant analysis can be performed. Maternal whole blood specimen is required for postnatal umbilical cord blood specimens to perform maternal cell contamination studies.

Limitations

This assay detects only the F8 intron 1 inversion variant, thus a negative result does not exclude the presence of other variants in F8. The intron 1 inversion variant targeted by this assay is found in approximately 5% of individuals with severe hemophilia A; if an intron 1 inversion has not already been identified in the family, the assay may be uninformative.

Test Details

New York Approved