Improved: SALSA MLPA Probemix P369 Smith-Magenis

Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) are associated with deletions or duplications in the 17p11.2 chromosomal region, respectively. Both syndromes usually involve a ~3.7 Mb region that contains RAI1 and other genes such as MY015A, TNFRSF13B, PEMT, ALDH342, and PMP22. Atypical deletions as well as other RAI1 variants have also been found in SMS patients. SMS-like symptoms can also be observed when the HDAC4 gene at 2q37.3 is affected as this can result in a reduced expression of RAI1.

SALSA MLPA Probemix P369 Smith-Magenis, designed for copy number detection of the 17p11.2 and 2q37.3 regions, has just received a major update with several improved or new target and reference probes. Interested in this product? Check out the P369 Smith-Magenis product page for more information or contact us with your questions.