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SALSA MLPA Probemix P153 EYA1

Branchiootorenal syndrome (BOR)

Region: EYA1 8q13.3

General information: 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/.

Probemix content: The SALSA MLPA Probemix P153-B2 EYA1 contains 28 MLPA probes with amplification products between 130 and 346 nucleotides (nt). This includes 18 probes for the EYA1 gene, one probe for each exon. In addition, ten 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.mlpa.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, 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.

Order Items

Probemix

Item no.
Description
Technology
Price
P153-025R
SALSA MLPA Probemix P153 EYA1 – 25 rxn
€ 243.00
P153-050R
SALSA MLPA Probemix P153 EYA1 – 50 rxn
€ 486.00
P153-100R
SALSA MLPA Probemix P153 EYA1 – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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