General information
The SALSA MLPA Probemix P367 BEST1-PRPH2 is a research use only (RUO) assay for the detection of deletions or duplications in the BEST1 and PRPH2 genes, which are associated with Vitelliform macular dystrophy.

Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The early-onset form (known as Best disease) usually appears in childhood; both the onset of symptoms and the severity of vision loss vary widely. The adult-onset form starts mid-adulthood, and tends to cause vision loss that worsens slowly over time. The two forms of vitelliform macular dystrophy each cause characteristic changes in the macula that can be detected during an eye examination. Defects in the gene BEST1 (=VMD2) on chromosome 11 are responsible for Best disease and for some cases of the adult-onset form of vitelliform macular dystrophy. Changes in the PRPH2 (=RDS) gene on chromosome 6 can also cause the adult-onset form of vitelliform macular dystrophy.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1167/

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 P367 BEST1-PRPH2 contains 24 MLPA probes with amplification products between 130 and 274 nucleotides (nt). This includes eleven probes for the BEST1 gene, one probe for each exon, and five probes for the PRPH2 gene, with one probe for exon 1 and exon 3, two probes for exon 2 and one additional probe targeting intron 1. In addition, eight 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.