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P488 RS1

SALSA® MLPA® Probemix P488 RS1 detects copy number variations in the RS1 gene.

Specifications

Contents: 19 MLPA probes, including 6 probes for RS1 (covering all exons) and 4 probes for CDKL5.

Tissue: human genomic DNA.

Application: research on X-linked juvenile retinoschisis (XLRS).

For research use only (RUO). Not for use in diagnostics.

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List Prices Documentation

General information

The SALSA MLPA Probemix P488 RS1 is a research use only (RUO) assay for the detection of deletions or duplications in the RS1 gene, which is associated with X-linked juvenile retinoschisis.

X-linked juvenile retinoschisis is a retinal dystrophy that leads to schisis (splitting) of the neural retina leading to reduced visual acuity in affected men. The split in the retina occurs predominantly within the inner retinal layers and is very different from retinal detachment, which is a split between the neural retina and the retinal pigment epithelium. This condition is caused by defects in the RS1 gene that lead to a dysfunctional retinoschisin protein which causes impaired adhesion of retinal cells. The prevalence of X-linked juvenile retinoschisis is estimated between 1 in 15,000 and 1 in 30,000 (Sikkink et al. 2007).

The RS1 gene (6 exons) spans ~32.4 kb of genomic DNA and is located on Xp22.13, 18.6 Mb from the p-telomere. The CDKL5 gene partially overlaps with RS1, having exons flanking RS1 and exons within introns of RS1. This SALSA MLPA Probemix contains probes for both RS1 and CDKL5.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1222/.

Regulatory status

SALSA MLPA Probemix P488 RS1 is for research use only (RUO) in all territories.

Product documentation

Version B1

    General documentation

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P488-025R
SALSA MLPA Probemix P488 RS1 – 25 rxn
MLPA
€ 286.00
P488-050R
SALSA MLPA Probemix P488 RS1 – 50 rxn
MLPA
€ 560.00
P488-100R
SALSA MLPA Probemix P488 RS1 – 100 rxn
MLPA
€ 1096.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 348.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 348.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1600.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6152.00

Price details & ordering

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.

More information about ordering & prices

Positive samples

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.

Resources

General MLPA resources

MLPA education

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