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SALSA MLPA P152 ABCA4 mix-2 probemiximproved

application: Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration, cone rod dystrophies
region: ABCA4 (ABCR) 1p22.1
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version: C1

item no. description price
P152-025R SALSA MLPA P152 ABCA4 mix-2 probemix – 25 rxn € 237
P152-050R SALSA MLPA P152 ABCA4 mix-2 probemix – 50 rxn € 474
P152-100R SALSA MLPA P152 ABCA4 mix-2 probemix – 100 rxn € 948
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 294
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 294
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1355
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1355

Please note that both a probemix and reagent kit are needed to perform MLPA.

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
version C1: Two ABCA4 probes and two reference probes have been removed.
version B2: A sequence problem in the 224 nt exon 47 probe has been solved.
new products
P479-TCF12 - ERF
Craniofacial disorders
improved products
P152-ABCA4 mix-2
Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration, cone rod dystrophies
P151-ABCA4 mix-1
Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration, cone rod dystrophies
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Dandy-Walker Malformation (DWM)
P340-EHMT1
9q subtelomeric deletion syndrome (9qSTDS) or Kleefstra syndrome.
P378-MUTYH
Colon cancer, stomach cancer (hereditary)
P294-Tumour Loss
Tumour Loss
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