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P456 EVC EVC2

SALSA MLPA Probemix P456 EVC EVC2 detects copy number variations in the EVC and EVC2 genes.

Specifications

Contents: 52 MLPA probes, including 19 probes for EVC, and 23 probes for the EVC2 region (covering all EVC2 exons).

Tissue: human genomic DNA.

Application: research on Ellis-van Creveld syndrome, and Weyers acrodental dysostosis.

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P456-A1 EVC EVC2 is a research use only (RUO) assay for the detection of deletions or duplications in the EVC and EVC2 genes, which are associated with Ellis-van Creveld syndrome.

The Ellis-van Creveld syndrome is a skeletal dysplasia characterized by short limbs and ribs, postaxial polydactyly and dysplastic nails and teeth. Additionally, congenital cardiac defects occur in 60% of affected individuals. The EVC and EVC2 genes, located on chromosome 4p16.2 in a head-to-head configuration, encode transmembrane proteins that are involved in the Hedgehog signalling pathway, involved in cellular organization and morphology during embryogenesis. Mutations in the EVC or EVC2 gene might also cause Weyers Acrodental Dysostosis, an autosomal dominant condition, having characteristics very similar to those of Ellis-van Creveld syndrome.

Regulatory status

SALSA MLPA Probemix P456 EVC EVC2 is for research use only (RUO) in all territories.

Product documentation

Version A1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P456-025R
SALSA MLPA Probemix P456 EVC EVC2 – 25 rxn
MLPA
€ 296.00
P456-050R
SALSA MLPA Probemix P456 EVC EVC2 – 50 rxn
MLPA
€ 580.00
P456-100R
SALSA MLPA Probemix P456 EVC EVC2 – 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.

The commercially available positive samples below can be used with the current (A1) version of this product.

  • Coriell NA22601: Heterozygous deletion affecting the probes for EVC2 and EVC.

Resources

General MLPA resources

MLPA education

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