|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|
|Turn around Time (analytic time)||5 to 10 business days|
|Report/Results||Fax number required to receive report|
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