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 inversions are the first to be screened for severe hemophilia A patients. Reference guidelines: GeneReviews Hemophilia A |
| Additional Test Information | If variant is not identified, further screening can be performed by DNA Hemophilia A Mutation Evaluation testing information. |
| Sample Requirements | EDTA (lavender top) or extracted DNA |
| Requested Volume | 3-10cc EDTA (lavender top) tube or >10 ug extracted DNA at a concentration of >25ng/ul.
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. |
| Shipping Information | Whole blood shipped at ambient temperature (or on dry ice) and should arrive in the lab within 48 hours of the blood draw.
Send samples to: Send cultured amniocyte samples to: Do not send samples to arrive on weekends or federal holidays or after 1pm on Fridays. For additional information, please see Ordering Information-Bleeding Disorders |
| Requisition Form | Request for Testing Eastlake Bleeding Disorders Laboratory |
| Transaction Code | 3250-05 |
| CPT Codes | 81403 |
| Turn around Time (analytic time) | 5 to 10 business days |
| Report/Results | Reports will be faxed or emailed. |
