factor IX gene mutation

Indications

• evaluation of hemophilia B

Clinical significance

• F9 gene mutations are associated with hemophilia B

Specimen

• whole blood (ACD or EDTA)
• store whole blood at 4 degrees C

Notes

• 1/3 of cases result from a point mutation in the gene for factor IX.

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• coagulation factor IX; Christmas factor; plasma thromboplastin component; PTC; contains: coagulation factor IXa light chain; coagulation factor IXa heavy chain (F9)
• hemophilia B; factor IX deficiency ; Christmas disease