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 | Samples must arrive at Bloodworks within 72 hours after collection shipped preferably with a “cool pack”. If sample was frozen the day of draw, please ship on dry ice.
Send samples to: Cultured amniocyte samples shipped at ambient temperature and should arrive in the lab within 48 hours and received Tuesday through Thursday. 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 Bloodworks 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. |
