Test Catalog

Test ID: F8INV    
Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, 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 mutation has not been identified in the family.

                         

Determining hemophilia A carrier status for at-risk females, ie, individuals with a family history of severe hemophilia A

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

Detects the common inversion mutations within the F8 gene. Approximately 50% of affected males with severe hemophilia A have been shown to have an inversion.

 

It is recommended that the F8 inversion mutation be confirmed in the affected male or obligate carrier female prior to testing at-risk individuals.

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) or Inverse Shifting-Polymerase Chain Reaction (IS-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 1/22 Inversion, B

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

Hemophilia A
HA
Factor VIII gene
F8
Intron 22 inversion
Intron 1 inversion