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: |
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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