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P292 PCDH15

SALSA MLPA Probemix P292 PCDH15 detects copy number variations in the PCDH15 gene.

Specifications

Contents: 42 MLPA probes, including 33 probes for PCDH15.

Tissue: human genomic DNA.

Application: research on Usher syndrome.

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

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List Prices Documentation

Key related products

P361 USH2A mix 1

Contains probes for the USH2A gene, involved in Usher syndrome type II.

P362 USH2A mix 2

Contains probes for the USH2A gene, involved in Usher syndrome type II.

View all

General information

The SALSA MLPA Probemix P292 PCDH15 is a research use only (RUO) assay for the detection of deletions or duplications in the PCDH15 gene, which is associated with Usher syndrome.

Usher syndrome is a heterogeneous autosomal recessive disorder characterised by hearing loss and retinitis pigmentosa. Three clinical types (USH1, -2, and -3) are defined with respect to the degree and progression of hearing loss and the presence or absence of vestibular dysfunction. Usher syndrome type I (USH1) is the most disabling form, while USH2 is the most common of the three types of Usher syndrome. The following six genes have been identified for USH1: MYO7A (Myosin VIIA, USH1B), USH1C (Usher syndrome 1C), CDH23 (Cadherin related 23, USH1D), PCDH15 (Protocadherin related 15, USH1F), USH1G (Usher syndrome 1G) and CIB2 (Calcium and integrin binding family member 2, USH1J). Mutations in the PCDH15 gene are associated with Usher syndrome type 1F (USH1F). The gene has been shown to be particularly prone to large rearrangements (Roux et al. 2011).

The PCDH15 gene (33 exons) spans ~1 Mb of genomic DNA and is located on 10q21.1, ~55 Mb from the p-telomere. The gene is a member of the cadherin superfamily and encodes for an integral membrane protein that mediates calcium-dependent cell-cell adhesion.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1265/.

Regulatory status

SALSA MLPA Probemix P292 PCDH15 is for research use only (RUO) in all territories.

Product documentation

Version B2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P292-025R
SALSA MLPA Probemix P292 PCDH15 – 25 rxn
MLPA
€ 286.00
P292-050R
SALSA MLPA Probemix P292 PCDH15 – 50 rxn
MLPA
€ 560.00
P292-100R
SALSA MLPA Probemix P292 PCDH15 – 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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