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SALSA MLPA KIT P245 Microdeletion syndromes
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM&cmd=Limits]
This SALSA MLPA P245 Microdeletion Syndromes probemix has been developed to simultaneously screen patients presenting with unexplained developmental delay and/or mental retardation for multiple microdeletion syndromes. Results suggesting a deletion or duplication of a certain chromosomal region can be confirmed by other techniques or by a syndrome-specific MLPA kit. For nearly all syndromes included in the P245 probe set, there exists a syndrome-specific MLPA probe set containing a large number of probes targeted at the chromosomal region(s) involved. Nearly 200 different MLPA probe sets are available from MRC-Holland: www.mlpa.com. This P245 probe set has a limited number of probes for each specific chromosomal region and will therefore not detect all possible causes of the syndromes included. For example, 70% of Prader Willi cases is caused by a large deletion of a 15q region which should be detected by this P245 probemix. In contrast, another relatively common cause of the syndrome concerns methylation changes in the SNRPN gene region, which will not be detected by this P245 probemix. These methylation changes can however be detected with the SALSA MS-MLPA kit ME028 Prader-Willi/Angelman. In case the particular phenotype of a patient suggests a specific microdeletion syndrome as a likely cause, we recommend (also) using a condition-specific MLPA probemix or another suitable technique to study the particular microdeletion syndrome suspected. Several of the syndromes included have only been discovered recently. Please inform us on interesting results, or problems, obtained with this new product. The microdeletion syndromes detected with this probemix P245 include: 1p36 deletion syndrome 2p16 microdeletion 3q29 microdeletion 9q22.3 microdeletion 15q24 deletion syndrome 17q21 microdeletion 22q13 / Phelan-Mcdermid Cri du Chat syndrome DiGeorge syndrome 22q11 DiGeorge region 2, 10p15 Langer-Giedion syndrome, 8q Miller-Dieker syndrome, 17p NF1 microdeletion syndrome Prader-Willi / Angelman MECP2 / Xq28 duplication Rubinstein-Taybi syndrome Smith-Magenis syndrome Sotos syndrome Wagr syndrome Williams syndrome Wolf-Hirschhorn syndrome
Full mix description (pdf)
IMPORTANT NOTICE: MLPA kits are sold by MRC-Holland for research purposes and to demonstrate the possibilities of the MLPA technique. This kit is not CE/FDA certified for use in diagnostic procedures. Salsa MLPA kits are supplied with all necessary buffers and enzymes. Purchase of the Salsa MLPA test kits includes a limited license to use these products for research purposes. The use of this MLPA kit requires a thermocycler with heated lid and sequence type electrophoresis equipment. Different fluorescent PCR primers are available. The MLPA technique has been first described in Nucleic Acid Research 30, e57 (2002)
References
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Last change in probemix content Current lot number
: lot 1008 (October 2008) : lot 1008
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