Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
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.
Test ID | Reporting Name | Available Separately | Always Performed |
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MATCC | Maternal Cell Contamination, B | Yes | No |
Maternal cell contamination testing will be performed for all cord blood specimens. A maternal whole blood sample with an order for MATCC / Maternal Cell Contamination, Molecular Analysis, Blood is also required to perform this test. (See Specimen Required for more details.)
The following algorithms are available in Special Instructions:
Polymerase Chain Reaction (PCR)