Hemophilia B (F9) Targeted Testing

AKA: Factor IX Deficiency; Christmas Disease
Short Name: F9 Targeted

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.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 306900
MedGen: 945