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P494 NBN

SALSA MLPA Probemix P494 NBN detects copy number variations in the NBN gene.

Specifications

Contents: 27 MLPA probes, including 18 probes for the NBN region (covering all NBN exons).

Tissue: human genomic DNA.

Application: research on Nijmegen breakage syndrome (NBS).

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

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List Prices Documentation

General information

The SALSA MLPA Probemix P494 NBN is a research use only (RUO) assay for the detection of deletions or duplications in the NBN gene, which is associated with Nijmegen breakage syndrome.

Nijmegen breakage syndrome (NBS) is characterised by progressive microcephaly, intrauterine growth retardation and short stature, recurrent sinopulmonary infections, an increased risk of cancer, and premature ovarian failure in females. It is inherited in an autosomal recessive manner, but carriers have an increased risk of breast cancer (Bogdanova et al. 2008). The prevalence is unknown, but it is most common in the Central and Eastern European populations. The disease is caused by mutations in the NBN gene (previously known as NBS1). The NBN gene encodes nibrin, which is part of a double-strand break repair protein complex involved in cell-cycle checkpoint regulation (Varon et al. 1998).

The NBN gene (16 exons) spans ~51 kb of genomic DNA and is located on chromosome 8q21.3, ~91 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1176/.

Regulatory status

SALSA MLPA Probemix P494 NBN 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
P494-025R
SALSA MLPA Probemix P494 NBN – 25 rxn
MLPA
€ 286.00
P494-050R
SALSA MLPA Probemix P494 NBN – 50 rxn
MLPA
€ 560.00
P494-100R
SALSA MLPA Probemix P494 NBN – 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.

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

Resources

General MLPA resources

MLPA education

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