Test ID: F81B    
Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation, Whole Blood

First-tier molecular testing for males affected with severe hemophilia A, when a familial intron 1 inversion has been previously identified.

Determining hemophilia A carrier status for at-risk females, ie, individuals with a family history of severe hemophilia A due to F8 intron 1 inversion

Detects the intron 1 inversion in the F8 gene. The intron 1 inversion mutation accounts for approximately 5% of mutations associated with severe hemophilia A.

Intron 1 inversion known mutation analysis can only be performed for individuals when an intron 1 inversion has already been identified in the family. If a mutation has not already been identified in the family, order F8INV / Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood.

Maternal cell contamination testing will be performed for all cord blood specimens. A maternal whole blood sample is required to perform this test.

The following algorithms are available in Special Instructions:

-Hemophilia Carrier Testing Algorithm

-Hemophilia Testing Algorithm

• Informed Consent for Genetic Testing
• Hemophilia Carrier Testing Algorithm
• Hemophilia Testing Algorithm
• Hemophilia A Patient Information
• Informed Consent for Genetic Testing (Spanish)

Polymerase Chain Reaction (PCR)