Sorted By Test Name - Mayo Medical Laboratories

FIXMS
84209
HQ
9220
Hemophilia B, Factor IX Gene Mutation Screening
Clinical Information: Hemophilia B, factor IX deficiency, is an X-linked recessive bleeding disorder
with an incidence of about 1 per 30,000 live male births. This occurs as a result of mutation(s) in factor IX
(fIX) gene. As many as 1/3 of hemophiliacs have no affected family members, reflecting a high mutation
rate (de novo mutations). Hemophilia B affects males, however, all male offspring will be normal, and
although all female offspring will be obligatory carriers, they rarely have symptomatic bleeding. In
contrast, female offspring of carriers of hemophilia B have a 50% chance of being carriers themselves,
and each male offspring has a 50% chance of being affected. Based on factor IX activity, hemophilia B is
classified into severe (factor IX activity