The SALSA MLPA
Probemix P011 / P012 VWF is a research use only (RUO)
assay for the detection of deletions or duplications in the VWF
gene, which is associated with von Willebrand Disease (vWD).
vWD is the most common hereditary coagulation abnormality described in humans. vWD is caused by a deficiency of von Willebrand factor (vWF), a blood glycoprotein which mediates the interaction of platelets with damaged endothelial surfaces at sites of vascular injury. vWF also acts as the carrier for factor VIIIC, thus increasing the half-life of VIIIC in the circulation. Furthermore, the vWF protein is involved in a number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK7014/
The SALSA MLPA Probemix P011-B4 VWF mix 1 contains 37 MLPA probes with amplification products between 124 and 432 nucleotides (nt). This includes 28 probes targeting 26 out of 52 exons of the VWF
gene (two probes for exons 2 and 6).
In addition, nine reference probes are included that detect autosomal chromosomal locations.
The SALSA MLPA Probemix P012-B4 VWF mix 2 contains 37 MLPA probes with amplification products between 124 and 433 nucleotides (nt). This includes 28 probes targeting 28 out of 52 exons of the VWF
In addition, nine reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mlpa.com
These probemixes contain nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, one chromosome X, and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com