SALSA MLPA Probemix P389 MLL2 detects copy number variations in the MLL2 gene.
Contents: 35 MLPA probes, including 26 probes for MLL2.
Tissue type: human genomic DNA.
Application: research on Kabuki syndrome (KS).
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P389 MLL2 is a research use only (RUO) assay for the detection of deletions or duplications in the MLL2 gene, which is associated with Kabuki Syndrome (KS).
KS is a rare syndrome characterised by intellectual disability and multiple congenital abnormalities, in particular a distinct dysmorphic facial appearance. KS can be caused by mutations in the MLL2 gene (also known as KMT2D), encoding an H3K4 histone methyl transferase which acts as an epigenetic transcriptional activator during growth and development. The vast majority of reported cases have been sporadic, but parent-to-child transmission suggests that KS is an autosomal dominant disorder.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK62111/.
SALSA MLPA Probemix P389 MLL2 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.