General information
The SALSA MLPA Probemix P266 CLCNKB is a research use only (RUO) assay for the detection of deletions or duplications in the CLCNKB and CLCNKA genes, which are associated with Bartter syndrome.

Bartter syndrome refers to a group of disorders in which salt reabsorption in the thick ascending loop of Henle is impaired by approximately 70%. The phenotype of this syndrome is characterised by short stature, hyperactive renin-angiotensin system, lack of effect of angiotensin on blood pressure, renal potassium wasting, increased renal prostaglandin production, and occasionally hypomagnesemia. At present, four types of Bartter syndrome have been identified:

• Antenatal Bartter syndrome type 1 and 2 are caused by loss-of-function mutations in the SLC12A1 gene and KCNJ1 gene, respectively.
  
• Bartter syndrome type 3 is due to mutations in the kidney chloride channel B (CLCNKB) gene.
  
• Bartter syndrome type 4 (or infantile Bartter syndrome with sensorineural deafness) results from mutations of the BSND gene (type 4A) or by simultaneous mutations in both the CLCNKA and CLCNKB genes (type 4B).
  

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 P266-B2 CLCNKB contains 29 MLPA probes with amplification products between 136 and 409 nucleotides (nt). This includes 14 probes covering 14 out of 20 exons of the CLCNKB gene and two probes for the CLCNKA gene, one for exon 5 and one for exon 10. Furthermore, two flanking probes located upstream of CLCNKA have been included to aid determination of the extent of a deletion/duplication. In addition, 11 reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference 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.