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P168 ARVC-PKP2

SALSA MLPA Probemix P168 ARVC-PKP2 detects copy number variations in the PKP2, DSG2, DSC2, JUP, DSP, TGFB3 and RYR2 genes.

Specifications

Contents: 44 MLPA probes, including 16 probes for the PKP2 region, 5 probes for DSP, 3 probes each for JUP, DSC2, DSG2 and TGFB3, and 2 probes for RYR2.

Tissue: human genomic DNA.

Application: research on arrhythmogenic right ventricular cardiomyopathy (ARVC).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P168 ARVC-PKP2 is a research use only (RUO) assay for the detection of deletions or duplications in the PKP2, DSG2, DSC2, JUP, DSP, TGFB3, and RYR2 genes, which are associated with Arrhythmogenic right ventricular cardiomyopathy (ARVC).

ARVC is a disease with primarily right ventricular dysplasia and is characterised by fibro-fatty infiltration of the myocardium. The clinical presentation is irregular but predominantly characterised by ventricular arrhythmias, syncope, and sudden cardiac death. Diagnosis can be difficult in certain cases but is facilitated by criteria proposed by the Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) Task Force.

Mutations in the plakophilin-2 (PKP2) gene have been found in approximately 30% of patients with ARVC. Other genes that have been linked to ARVC are desmoglein-2 (DSG2), desmoscollin-2 (DSC2), plakoglobin (JUP), desmoplakin (DSP), transforming growth factor-ß3 (TGFB3), and the cardiac ryanodine receptor (RYR2) genes. Mutations in one of these latter genes are found in only a small subset of ARVC patients.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1131/.

Regulatory status

SALSA MLPA Probemix P168 ARVC-PKP2 is for research use only (RUO) in all territories.

Product documentation

Version D1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P168-025R
SALSA MLPA Probemix P168 ARVC-PKP2 – 25 rxn
MLPA
€ 296.00
P168-050R
SALSA MLPA Probemix P168 ARVC-PKP2 – 50 rxn
MLPA
€ 580.00
P168-100R
SALSA MLPA Probemix P168 ARVC-PKP2 – 100 rxn
MLPA
€ 1135.00

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
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

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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