Test Catalog

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

Useful For Suggests clinical disorders or settings where the test may be helpful

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

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
MATCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

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

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR)

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

HA F8 Intron 1 Inversion KM, B

Aliases Lists additional common names for a test, as an aid in searching

Hemophilia A
HA
Factor VIII gene
F8
Intron 1 inversion