Laboratory Issues

The large size of the VWF gene precludes efficient, cost-effective screening or sequencing for clinical testing. In addition, (co)amplification of the unprocessed pseudogene, homologous to exons 23 to 34 of the VWF gene, complicates mutation analysis of PCR products amplified from genomic DNA. However, availability of primers designed specifically to amplify the VWF gene allows for analysis of the VWF gene sequence distinct from the pseudogene. Mutation analysis of mRNA has been performed on a research basis but is not practical for clinical testing given the instability of mRNA in transported specimens and the complexity of the testing.

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