SALSA MLPA Probemix P136 Gitelman Syndrome detects copy number variations in the SLC12A3 gene.
Contents: 36 MLPA probes, including 26 probes for SLC12A3.
Tissue: human genomic DNA.
Application: research on Gitelman syndrome.
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P136 Gitelman Syndrome is a research use only (RUO) assay for the detection of deletions or duplications in the SLC12A3 gene, which is associated with Gitelman syndrome.
The Gitelman variant of Bartter Syndrome (OMIM 263800) is an autosomal recessive disorder characterised by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity. It is mainly caused by defects in the SLC12A3 gene on chromosome 16.
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1338/.
SALSA MLPA Probemix P136 Gitelman Syndrome 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.