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SALSA® MLPA® Probemix P147 1p36 detects copy number variations in the 1p36 subtelomeric region.
SALSA® MLPA® Probemix P147 1p36 detects copy number variations in the 1p36 subtelomeric region.
Tissue: human genomic DNA.
Application: research on 1p36 deletion syndrome and characterization of copy number variations detected by P036 Subtelomeres Mix 1 and/or P070 Subtelomeres Mix 2B for research purposes.
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P147 1p36 is a research use only (RUO) assay for the detection of deletions or duplications in the 1p36 subtelomeric region, which are associated with the 1p36 deletion syndrome, also referred to as "monosomy 1p36". The P147 1p36 can be used to confirm and further characterise abnormalities detected by P036 Subtelomeres Mix 1 and/or P070 Subtelomeres Mix 2B.
1p36 deletion syndrome is a chromosome disorder where the end of the short arm of one of the two chromosomes is lost. The breakpoints for this cytogenetic syndrome are variable and range from bands 1p36.13 to 1p36.33 (Slavotinek et al. 1999). It is considered to be one of the most common chromosome terminal deletion syndromes and is a frequent cause of intellectual disability, although there is phenotypic variability based on the location and the extent of the deletions (Jordan et al. 2015). The incidence has been estimated to be 1 in 5,000 to 1 in 10,000 live born children (Gajecka et al. 2007). To date, more affected females than males have been reported.
SALSA MLPA Probemix P147 1p36 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.