SALSA MLPA P029 WBS probemix

application: Williams-Beuren syndrome
region: WBS criticial region 7q11.23
[login for my products]
version: C1
sold since: 2017-06-06

item no. description price
P029-025R SALSA MLPA P029 WBS probemix – 25 rxn € 237
P029-050R SALSA MLPA P029 WBS probemix – 50 rxn € 474
P029-100R SALSA MLPA P029 WBS probemix – 100 rxn € 948
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 294
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 294
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1355
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1355

Please note that both a probemix and reagent kit are needed to perform MLPA.

description
Williams-Beuren Syndrome (WBS) is an autosomal dominant disorder characterised by cardiovascular disease (supravalvular aortic stenosis (SVAS) and multiple peripheral pulmonary arterial stenosis), distinctive facial features, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities and endocrine abnormalities. Williams-Beuren syndrome is estimated to occur at a frequency of approximately 1 in 7500 live births. More information is available on http://www.ncbi.nlm.nih.gov/books/NBK1249/.

Deletions of the WBS critical region (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.

The P029-C1 probemix contains 9 probes detecting sequences in the ELN gene, 14 probes detecting sequences outside ELN but within the commonly deleted WBS region, and 5 probes detecting sequences in 7q11.23 but outside the WBS region. In addition, 9 reference probes are included in this probemix, detecting several different autosomal chromosomal locations.
Possible copy number changes of this genomic region in healthy individuals can be found in the database of genome variants (http://dgv.tcag.ca/dgv/app/home).

This SALSA® MLPA® probemix is designed to detect deletions/duplications of one or more sequences in the aforementioned chromosomal region in a DNA sample. Heterozygous deletions of probe recognition sequences should give a 35-50% reduced relative peak height of the amplification product of that probe. Note that a mutation or polymorphism in the sequence detected by a probe can also cause a reduction in relative peak height, even when not located exactly on the ligation site! In addition, some probe signals are more sensitive to sample purity and small changes in experimental conditions. Therefore, deletions and duplications detected by MLPA should always be confirmed by other methods. Not all deletions and duplications detected by MLPA will be pathogenic; users should always verify the latest scientific literature when interpreting their findings.

related products
SALSA MLPA P064 Microdeletion Syndromes-1B probemix
Contains a few probes for the ELN gene.
SALSA MLPA P245 Microdeletion Syndromes-1A probemix
Contains a few probes for the ELN gene.
SALSA MLPA P374 Microdeletion syndromes 8 probemix
Contains probes for the 7q11.23 region.

product history
version C1: Two target probes have been removed, three reference probes have been replaced and three probe lengths have been adjusted.
version B1: The probemix has been competely redesigned.
version A1: Extra control fragments at 88 and 96 nt have been added. Small changes have been made to three probes.

new products
P520-MPN mix 2
Myeloproliferative neoplasms
improved products
P083-CDH1
Hereditary diffuse gastric cancer
P066-Marfan Syndrome-2
Marfan syndrome
P065-Marfan Syndrome-1
Marfan syndrome
P081-NF1 mix 1
Neurofibromatosis
P262-GHI
Growth Hormone Insensitivity (GHI)
P264-Human Telomere-9
Subtelomeric testing
Newsletter  |  Home  |  Site map  |  Terms and Conditions  |  Search  |  Copyright © 2017 MRC-Holland