Table 2.

Molecular Genetic Testing Used in von Willebrand Disease (VWD)

Gene 1VWD Type(s) 2Proportion of VWD Attributed to This TypeMethodProportion of Probands with a Pathogenic Variant 3 Detectable by Method
VWF 1~30%Sequence analysis 480% 5
Gene-targeted deletion/duplication analysis 66% 7
All type 2 forms~60%Sequence analysis 4~90% 7
Gene-targeted deletion/duplication analysis 60.2% 7
3<10% 8Sequence analysis 4~90% 7
Gene-targeted deletion/duplication analysis 63.7% 7
1.

See Table A. Genes and Databases for chromosome locus and protein.

2.

Recent changes in the von Willebrand factor (VFW) level used for diagnosis have significantly altered the proportion of patients classified with each disease type [Lassila et al 2011, Castaman et al 2013, Laffan et al 2014].

3.

See Molecular Genetics for information on allelic variants detected in this gene.

4.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

5.
6.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

7.
8.

In populations with frequent consanguineous partnerships, the rate of recessive forms of VWD may be elevated and type 3 VWD comprises a larger proportion of affected individuals.

From: von Willebrand Disease

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