SALSA MLPA Probemix P395 MEF2C-FOXG1 detects copy number variations in the MEF2C and FOXG1 genes.
Contents: 42 MLPA probes, including 22 probes for the MEF2C region, and 5 probes for the FOXG1 region.
Tissue: human genomic DNA.
Application: research on disorders related to intellectual disability.
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P395 MEF2C-FOXG1 is a research use only (RUO) assay for the detection of deletions or duplications in the MEF2C and FOXG1 genes, which are associated with intellectual disability.
Intellectual disability can be provoked by different chromosomal aberrations, for example deletions of the chromosomal regions 5q14.3 and 14q12. Deletions of the 5q14.3 region mainly affect the MEF2C gene encoding myocyte enhancer factor 2C. It was shown that microdeletions in this gene are involved in severe intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformation (Zweier 2010; Le Meur 2010; Nowakowska 2010). Another gene that has been implicated in intellectual disability is the FOXG1 gene encoding forkhead box G1. Copy number variants (Mencarelli 2009; Kortüm 2011; OMIM #613454), as well as point mutations (Bahi-Buisson 2010; Allou 2012) have been described in literature as a potential cause of a Rett-like phenotype.
More information on MEF2C is available at https://www.omim.org/entry/600662
More information on FOXG1 is available at https://www.omim.org/entry/164874
SALSA MLPA Probemix P395 MEF2C-FOXG1 is for research use only (RUO) in all territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.
Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.
We have no information about specific commercially available positive samples that can be used with this product.