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:
For additional information please see Ordering Information-Bleeding Disorders
|Requisition Form||Request for Testing Hemostasis Reference Laboratory|
|Turn around Time (analytic time)||5-10 business days|