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SALSA MLPA Probemix P029 WBS detects copy number variations in the WBS critical region (WBSCR), located at 7q11.23.
Contents: 37 MLPA probes, including 28 probes for the 7q11.23 chromosomal region.
Tissue: human genomic DNA.
Application: research on Williams-Beuren syndrome (WBS).
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P029 WBS is a research use only (RUO) assay for the detection of deletions or duplications in the WBS critical region (WBSCR) on the 7q11.23 chromosomal region, which is associated with Williams-Beuren syndrome (WBS).
Williams-Beuren Syndrome (WBS) is an autosomal dominant disorder characterised by cardiovascular disease, distinctive facial features, connective tissue abnormalities, intellectual disability, a specific cognitive profile, unique personality characteristics, growth abnormalities and endocrine abnormalities. WBS is estimated to occur at a frequency of approximately 1 in 7500 live births (Morris 1999).
Deletions of the WBSCR on 7q11.23, including the ELN gene, are the main cause of WBS. Besides deletions of the WBS region, some duplications have also been described, giving rise to the Williams-Beuren duplication syndrome (OMIM 609757). The commonly deleted or duplicated chromosomal region has a size of 1.55 Mb (90-95%) or 1.84 Mb (5-10%) and is flanked by highly homologous DNA sequences. However, smaller deletions within the WBSCR, with a variable phenotype, have also been described.
More information is available at http://www.ncbi.nlm.nih.gov/books/NBK1249/
SALSA MLPA Probemix P029 WBS is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
See this support article for commercially available positive samples that can be used with this product.