Interpretation of Test Results

Detection of homozygous mutations in the F8 binding domains of VWF correlates with the presence of type 2N VWD. However, not all mutations in VWF have been characterized at a structural level and must be interpreted cautiously. The presence of a heterozygous mutation in the setting of low F8 activity could reflect the presence of a second unidentified mutation in the VWF gene (compound heterozygote). Although most known mutations in types 2A and 2B VWD are clustered within exon 28 of the VWF gene, type 2 variants with mutations outside this domain have been described.

0 0

Post a comment