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P368 DCLRE1C

SALSA MLPA Probemix P368 DCLRE1C detects copy number variations in the DCLRE1C, MEIG1, and DCLRE1CP1 genes.

Specifications

Contents: 33 MLPA probes, including 18 probes for DCLRE1C (covering all exons), 3 probes for MEIG1 and 2 probes for DCLRE1CP1.

Tissue: human genomic DNA.

Application: research on radiosensitive severe combined immunodeficiency (SCID), and radiosensitive Omenn syndrome.

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P368 DCLRE1C is a research use only (RUO) assay for the detection of deletions or duplications in the DCLRE1C, MEIG1, and DCLRE1CP1 genes, which are associated with radiosensitive Severe Combined Immunodeficiency (SCID) or radiosensitive Omenn syndrome.

The nuclease ARTEMIS (encoded by DCLRE1C, DNA crosslink repair 1C) is an essential factor in the process of V(D)J recombination and an important component of the nonhomologous end joining (NHEJ) DNA double-strand break (DSB) repair pathway. Patients with mutations in the DCLRE1C gene suffer from radiosensitive Severe Combined Immunodeficiency (SCID) or radiosensitive Omenn syndrome.

Pannicke et al. (2010) found that by far the most frequent mutations (59%) were gross deletions of exons 1-3 or 1-4, due to homologous recombination of the wild-type DCLRE1C gene with the DCLRE1CP1 gene, located 62.5 kilobases (kb) upstream of DCLRE1C. MEIG1 located between the gene and pseudogene is lost by these gross deletions.

Regulatory status

SALSA MLPA Probemix P368 DCLRE1C is for research use only (RUO) in all territories.

Product documentation

Version B1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P368-025R
SALSA MLPA Probemix P368 DCLRE1C – 25 rxn
MLPA
€ 296.00
P368-050R
SALSA MLPA Probemix P368 DCLRE1C – 50 rxn
MLPA
€ 580.00
P368-100R
SALSA MLPA Probemix P368 DCLRE1C – 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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