Hemophilia B, also called factor IX deficiency or Christmas disease, is an X-linked recessive blood clotting disorder caused by a deficiency of the vitamin K-dependent coagulant protein factor IX. Hemophilia B patients experience mild to severe bleeding complications according to the degree of factor IX defect. The c.1025C>T (p.Thr342Met) variant in exon 8 of the F9 gene is the most frequent pathogenic variant found in the Amish population. This targeted test will specifically analyze the c.1025C>T variant.
1 - 2 weeks