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SALSA MLPA KIT P250 DiGeorge
[http://www.geneclinics.org/profiles/hht/details.html]
This P250 DiGeorge probemix is an improved version of the widely used P023B MLPA probemix. The P023 probemix will remain available from MRC-Holland. However, we recommend the use of this new P250 kit. Microdeletions / duplications in the 22q11 region cause a variety of disorders, including DiGeorge syndrome (DGS; MIM 188400), Velocardiofacial syndrome (VCFS; MIM 192430) and Cat eye syndrome (CES; MIM 115470). DGS and VCFS have a large clinical overlap and are both caused by deletions of a specific 1-3 Mb region on chromosome 22q11. The overall birth prevalence of 22q11 deletions appears to be approximately 1 in 4.000, with 75% of these patients having cardiac abnormalities. Cat eye syndrome (CES) has a large phenotypic variability, ranging from near normal to severe malformations. The eyes are preferential affected. CES is caused by the presence of an extra 22q11 copy, usually present as a small extra chromosome, frequently having two centromeres. Although 90% of cases of DGS appear to be due to a 22q11 deletion, other chromosome defects with features of DiGeorge anomaly have also been described. This P250 MLPA probemix contains probes for several of these regions such as 10p14 (DGS2), 4q35 and 17p13. Please inform us when a deletion of one or more of the probes outside the 22q11 region is detected in a patient with a DiGeorge phenotype. The high frequency of 22q11 copy number changes is due to the presence of several copies of a repeat sequence (LCR22). The extend of the 22q11 deletions is variable, although 87% extend from the first (LCR22-A) till the fourth (LCR22-D) repeat. This P250 probemix contains 30 different probes in the 22q11 region and can be used to distinguish the most common types of deletion. Five of these 30 probes are in the Cat Eye Syndrome region and 14 are in the most common DiGeorge deletion.
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 0408 (April 2008) : lot 0408
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