Genotype for known Hemophilia / VWD mutation
| Also Known as (Alias) | Hemophilia carrier testing |
| Test Information | If the specific mutation is known, a family member may have the inheritance pattern of the mutation determined. This is most useful for women to assist in prenatal genetics and/or genetic counseling |
| Additional Test Information | Mutation analysis is performed one of two ways. If the mutation creates/removes a restriction enzyme digestion site, the testing will be performed by RFLP. If a restriction enzyme digestion site is not present, testing will be done by sequencing the exon in which the mutation is located. |
| 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 | 3250-11 |
| CPT Codes | 81403 |
| Turn around Time (analytic time) | 5-10 business days |