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SALSA MLPA Probemix P153 EYA1 detects copy number variations in the EYA1 gene.
Contents: 28 MLPA probes, including 18 probes for EYA1 (covering all exons).
Tissue: human genomic DNA.
Application: research on branchio-oto-renal dysplasia (BOR) syndrome.
For research use only (RUO). Not for use in diagnostics.
The SALSA MLPA Probemix P153 EYA1 is a research use only (RUO) assay for the detection of deletions or duplications in the EYA1 gene, which is associated with Branchio-oto-renal dysplasia (BOR) syndrome.
BOR syndrome, an autosomal dominant disorder, affects an estimated 2% of profoundly deaf children. Besides deafness, it is also characterized by renal, head, and neck abnormalities. Defects in the EYA1 gene are the cause of this syndrome. Complex genomic rearrangements account for a considerable fraction of all identified mutations in EYA1 (Chang et al. 2004; Vervoort et al. 2002).
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1380/.
SALSA MLPA Probemix P153 EYA1 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.