Test Catalog

Test ID: F9MAP    
Hemophilia B, F9 Gene Mutation Analysis, Amniotic Fluid or Chorionic Villus Sampling

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

Prenatal testing for a pathogenic mutation in the F9 gene in a fetus with a strong, confirmed family history of congenital hemophilia B (factor IX activity deficiency) in the exceptional circumstance where a familial mutation cannot be otherwise ascertained

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

Hemophilia B is an X-linked disorder caused by mutations in the F9 gene. This test enables the prenatal detection of missense, nonsense, splice site variants, and small intragenic deletions/insertions in the F9 gene that are responsible for most cases of hemophilia B, regardless of severity.

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
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/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 (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) 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 peripheral 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)/Fluorescent DNA Sequencing

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

F9 Gene Mut Analysis, AF or CVS

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

Christmas Disease
F9
Factor IX Deficiency Molecular Diagnosis
Hemophilia B Carrier Testing
Hemophilia B Genetic Testing