General information
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/.
This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P136-B4 Gitelman Syndrome contains 36 MLPA probes with amplification products between 130 and 454 nucleotides (nt). This includes 26 probes for the SLC12A3 gene, one probe for each exon, with the exception of exon 6. In addition, ten reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the ref
erence probes are available online (www.mrcholland.com).
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mrcholland.com.