F8 gene mutation; hemophilia A genotyping

Indications

• evaluation of hemophilia A

Clinical significance

• F8 gene mutations associated with hemophilia A

Specimen

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

Notes

• deletions, insertions & point mutations have been detected in the gene for factor VIII

More general terms

• gene mutation testing; gene mutation analysis

More specific terms

• F8 gene intron 1 inversion

Additional terms

• coagulation factor VIII; antihemophilic factor; AHF; procoagulant component; contains: factor VIIIa heavy chain, 200 kD & 92 isoforms; factor VIII B chain; factor VIIIa light chain (F8, F8C)