Test Catalog

Test ID: F9KMP    
Hemophilia B, F9 Gene Known Mutation Analysis, Prenatal

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

Prenatal testing for a known familial pathogenic mutation in the F9 gene in a fetus who is at risk for inheriting this mutation

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 is intended to prenatally detect a previously confirmed familial mutation (missense, nonsense, splice site variants, and small intragenic deletions/insertions) in an at-risk fetus. This mutation should be confirmed and documented in an affected family member and/or confirmed in the mother of the fetus via molecular testing. Documentation of the specific familial mutation must be provided with the specimen in order to perform this test. Testing will be cancelled if this documentation is not submitted. This test is not validated to detect large deletions or duplications that are a cause of approximately 3% of cases of hemophilia B.

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
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo

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.


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

F9 Gene Known Mutation, AF or CVS

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

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