Test Catalog

Test ID: F81P    
Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation Analysis, Amniotic Fluid or Chorionic Villus Sampling

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

Prenatal testing for hemophilia A when a F8 intron 1 inversion has been identified in a family member.

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 on a prenatal specimen can only be performed when there is a known intron 1 inversion in the family.

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
CULAFAmniotic Fluid Culture/Genetic TestYesNo
CULFBFibroblast Culture for Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo

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

If amniotic fluid is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added. 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, AF or CVS

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

Hemophilia A
HA
Factor VIII gene
F8
Intron 1, inversion