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SALSA MLPA Probemix P494 NBN

Nijmegen Breakage Syndrome; Breast cancer

Region: NBN 8q21.3

MLPA | New
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/.

This SALSA MLPA probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content
The SALSA MLPA Probemix P494-A1 NBN contains 27 MLPA probes with amplification products between 172 and 373 nucleotides (nt). This includes 18 probes for the NBN gene (one probe for each exon, two probes for exon 16 and one upstream probe). In addition, nine reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mrcholland.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P494-025R
SALSA MLPA Probemix P494 NBN – 25 rxn
€ 243.00
P494-050R
SALSA MLPA Probemix P494 NBN – 50 rxn
€ 486.00
P494-100R
SALSA MLPA Probemix P494 NBN – 100 rxn
€ 972.00

Required Reagents (Sold Separately)

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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First released on Jul 29, 2021