Hemophilia B

Identification of causative mutations in the factor IX gene for families with hemophilia B can permit very accurate determination of carrier status of at-risk females in these families and provides options for prenatal diagnosis. To identify the mutation in a hemophilia B family, a blood sample is required from an affected individual (proband). Full mutation analysis of the factor IX gene is performed. After a mutation is detected in a proband, carrier testing and prenatal diagnosis may be offered to the family. In cases where a proband is not available for testing, analysis may be performed on a sample from an obligate carrier.

FAQ: Can I test a female for hemophilia A/B?

To open a printable assay summary in a new window, click the link below.

Hemophilia B (Factor IX Gene) Mutation Analysis Assay Summary
(in portable document format (pdf) which requires Adobe® Acrobat® Reader™ to view or print; download latest version free)

Please submit the Test Request Form (TRF) and the Hemophilia Patient Information Form when ordering this test.

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