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Beckwith-Wiedemann syndrome (BWS) and Russell-Silver syndrome (RSS) are disorders that are predominantly caused by erroneous imprinting in the 11p15 chromosomal region. Additionally, around 10% of RSS cases involve maternal uniparental disomy (UPD) for chromosome 7.
SALSA MLPA Probemix ME030 BWS/RSS was designed to simultaneously provide insights on the copy number as well as the methylation status of the regions of interest at 11p15 and on chromosome 7. Furthermore, ME030 BWS/RSS can also be used for studying Wilms' tumour, since the probemix covers a region whose methylation status is implicated in the disease.
SALSA MLPA Probemix ME030 BWS/RSS has been updated to ensure an even more robust assay output with several improved target and reference probes and a new digestion control probe. Would you like to know more? Check out the ME030 BWA/RSS product page for more information or contact us with your questions.