Laboratory Issues

As with any genetic test performed on peripheral blood leukocyte genomic DNA, high-quality DNA extracted from whole blood is essential for the quality of the testing. The specimen needs to be clearly identified and information on allogeneic bone marrow or peripheral blood stem cell transplant in the individual needs to be provided.


Hemophilia B (HB) is an X-linked recessive bleeding disorder due to a deficiency of F10 and is clinically indistinguishable from HA. HB affects 1 in 30,000 live male births across all ethnic groups. Up to 30% of HB cases occur in families with no prior family history of HB. The diagnosis is established based on plasma F10 activity, which, like HA, permits classification of HB into severe (<1% F10 activity), moderate (1% to 5%), or mild (>5% to 40%) disease.

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