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P029 WBS

SALSA MLPA Probemix P029 WBS detects copy number variations in the WBS critical region (WBSCR), located at 7q11.23.

Specifications

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.

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List Prices Documentation

Key related products

P064 Microdeletion Syndromes-1B

Contains a few probes for the ELN gene.

P245 Microdeletion Syndromes-1A

Contains a few probes for the ELN gene.

View all

General information

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/

Regulatory status

SALSA MLPA Probemix P029 WBS is for research use only (RUO) in all territories.

Product documentation

Version C1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P029-025R
SALSA MLPA Probemix P029 WBS – 25 rxn
MLPA
€ 286.00
P029-050R
SALSA MLPA Probemix P029 WBS – 50 rxn
MLPA
€ 560.00
P029-100R
SALSA MLPA Probemix P029 WBS – 100 rxn
MLPA
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

Price details & ordering

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.

More information about ordering & prices

Positive samples

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.

Resources

General MLPA resources

MLPA education

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