SALSA MLPA Probemix P367 BEST1-PRPH2 detects copy number variations in the BEST1 and PRPH2 genes.
Contents: 24 MLPA probes, including 11 probes for BEST1, and 5 probes for PRPH2 (covering all exons of both genes).
Tissue: human genomic DNA.
Application: research on vitelliform macular dystrophy.
For research use only (RUO). Not for use in diagnostics.
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/
SALSA MLPA Probemix P367 BEST1-PRPH2 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.