Available Assays

Direct DNA testing to identify the specific mutation in the VWF gene is useful for the differentiation of type 2N from mild HA, and type 2A from type 2B. Methods include restriction fragment length polymorphism (RFLP) or direct sequencing. Indirect testing by linkage analysis is available for VWD; however, it is rarely indicated except for severe type 3 VWD. Laboratories offering testing for VWD are listed in GeneTests.6 Currently, no laboratory offers screening or sequencing for the VWF gene on a clinical basis.

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