DNA Factor VIII Inversion

Also Known as (Alias) Intron 1 or 22 inversion
Method polymerase chain reaction (PCR) based
Test Information In severe hemophilia A, a common recurrent intron 22 gene inversion accounts for ~45% of the cases. A recurrent intron 1 inversion accounts for ~5% of the cases. These two sites are the first to be screened for severe hemophilia A patients.
Additional Test Information If mutation is not identified, further screening can be performed by DNA Hemophilia A Mutation Evaluation (LINK) testing information
Sample Requirements EDTA (lavender top)
Requested Volume 5-10cc EDTA (lavender top) tube OR

Analysis of amniocytes can be performed on cultured amniocytes. Two T-25 flasks of cells cultured to confluency will be accepted. Bloodworks Northwest does not have facilities to culture amniocytes.  Bloodworks Northwest does not have facilities to culture amniocytes.

Shipping Information Whole blood shipped at 4oC or ambient temperature is acceptable and should arrive in the lab within 48 hours.

Send samples to:
Bloodworks Northwest
Eastlake SDL
1551 Eastlake Ave E.
Seattle, WA 98102

For additional information please see Ordering Information

Requisition Form Request for Testing Hemostasis Reference Laboratory
Transaction Code 3250-05
CPT Codes 81403
Turn around Time (analytic time) 5 to 10 business days
Report/Results Fax number required to receive report

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