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F8 gene mutation; hemophilia A genotyping

Indications: - evaluation of hemophilia A Clinical significance: - F8 gene mutations associated with hemophilia A Specimen: 1) whole blood (ACD or EDTA) 2) store whole blood at 4 degrees C Notes: - deletions, insertions & point mutations have been detected in the gene for factor VIII

Related

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)

Specific

F8 gene intron 1 inversion

General

gene mutation testing; gene mutation analysis

References

  1. Loinc
  2. Clinical Guide to Laboratory Tests, 3rd ed. Teitz ed., W.B. Saunders, 1995