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:
Bloodworks Northwest
Eastlake SDL
1551 Eastlake Ave E.
Seattle, WA 98102

For additional information please see Ordering Information
Requisition Form Request for Testing Hemostasis Reference Laboratory
Transaction Code 3250-11
CPT Codes 81403
Turn around Time (analytic time) 5-10 business days