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 3-10cc 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.  

Shipping Information Whole blood shipped at ambient temperature and should arrive in the lab within 48 hours.

Send samples to:
Bloodworks Northwest
Eastlake Bleeding Disorders Laboratory
1551 Eastlake Ave E. Suite 100
Seattle, WA 98102

Send cultured amniocyte samples to:
Bloodworks Northwest
Genomics Testing Laboratory
921 Terry Ave
Seattle, WA 98104

For additional information, please see Ordering Information-Bleeding Disorders

Requisition Form Request for Testing Eastlake Bleeding Disorders Laboratory
Transaction Code 3250-11
CPT Codes 81403
Turn around Time (analytic time) 5-10 business days

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