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F9 (Factor IX) Gene Mutation Analysis Bookmark and Share

F9 (Factor IX) Gene Mutation Analysis

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.

F9 (Factor IX) Gene Mutation Analysis

F9 (Factor IX) Gene Mutation Analysis

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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