SALSA MLPA P151 ABCA4 mix-1 probemix

Application: Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration, cone rod dystrophies
Region: ABCA4 (ABCR) 1p22.1
Categories:  Visual Impairment
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Item no. Description Price
P151-025R SALSA MLPA P151 ABCA4 mix-1 probemix – 25 rxn € 243
P151-050R SALSA MLPA P151 ABCA4 mix-1 probemix – 50 rxn € 486
P151-100R SALSA MLPA P151 ABCA4 mix-1 probemix – 100 rxn € 972
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 300
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 300
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1380
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1380
To perform MLPA, both a probemix and reagent kit are needed.

Description
General Information: The SALSA MLPA Probemixes P151 ABCA4 mix-1 and P152 ABCA4 mix-2 are research use only (RUO) assays for the detection of deletions or duplications in the ABCA4 gene, which is associated with several diseases, including Stargardt macular dystrophy, retinitis pigmentosa type 19 (RP19), cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and age-related macular degeneration type 2 (ARMD2). These diseases are inherited in an autosomal recessive manner, except from ARMD2 which is a dominant disorder. The ABCA4 gene encodes an ATP-binding cassette (ABC) transporter. This transmembrane protein, expressed exclusively in retinal photoreceptors, is involved in energy-dependent transport of a wide spectrum of substrates across membranes.

More information is available at http://omim.org/entry/601691.

Probemix content: The SALSA MLPA Probemix P151-C1 ABCA4 mix-1 contains 39 MLPA probes with amplification products between 130 and 454 nt. This includes 26 probes for the ABCA4 gene and one downstream flanking probe in the BCAR3 gene. The SALSA MLPA Probemix P152-C1 ABCA4 mix-2 contains 35 MLPA probes with amplification products between 133 and 445 nt. This includes 23 probes for the ABCA4 gene. Together, these probemixes cover all exons of the ABCA4 gene with the exception of exon 13 and 40. In addition, both mixes have 12 reference probes that detect 12 different autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes is available online (www.mlpa.com).

Each of these probemixes contain 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 (see table in the product description). 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.

Related Products
SALSA MLPA P235 Retinitis probemix: Contains probes for the autosomal genes IMPDH1, PRPF31, RHO and RP1.
SALSA MLPA P366 CHM-RP2-RPGR probemix: Contains probes for the X-linked genes CHM, RP2 and RPGR.

Product History
Current version: C1, sold since: 2018-05-02.

Version C1: One ABCA4 probe has been removed, three reference probes have been replaced and one probe length has been adjusted.
Version B1: Eight ABCA4 probes and ten reference probes have been replaced, two new ABCA4 probes have been included and the QDX2 control fragments have been added.

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