General Information: The SALSA MLPA Probemix P328-A3 EYS is a research use only (RUO) assay for the detection of deletions or duplications in the EYS gene.

The EYS gene (43 exons) spans ~2 Mb of genomic DNA, and is located on chromosome 6q12, ~64 Mb from the p-telomere.

Mutations in the EYS (eyes shut homolog) gene, originally designated as the RP25 locus on chromosome 6q12, are a major cause of autosomal recessive retinitis pigmentosa 25 (RP25). RP25 is characterised by progressive peripheral vision loss and night vision difficulties (nyctalopia) that can lead to central vision loss.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1417

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 P328-A3 EYS contains 55 MLPA probes with amplification products between 128 and 500 nt. This P328-A3 contains one probe for each exon of the gene or in an intron close to an exon except for exon 9 and 27. Additionally, this probemix includes a probe for intron 11 and 27. Exon 12, 17 and 28 are covered by two probes, a normal copy number probe as well as a wildtype probe for three pathogenic mutations described in Abd El-Aziz M.M. et al. (2008. Nat Genet. 40(11):1285-1287). In addition, nine reference probes are included, that detect several different autosomal chromosomal locations.

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, 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.mlpa.com.