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SALSA MLPA Probemix P248 MLH1-MSH2 Confirmation

SALSA® MLPA® probemix P248 MLH1-MSH2 Confirmation detects copy number variations in the MLH1 and MSH2 genes, and is intended to confirm copy number variations obtained with SALSA® MLPA® Probemix P003 MLH1/MSH2.

Specifications

Contents: 49 MLPA probes, including 21 probes for MLH1, 17 probes for MSH2 and 1 probe downstream of MSH2.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: Lynch syndrome (LS).

CE-marked for in vitro diagnostic (IVD) use.

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List Prices Documentation

Key related products

SALSA MLPA Probemix ME011 Mismatch Repair Genes

Contains probes for EPCAM, MLH1, MSH2, MSH6 and PMS2 genes.

SALSA MLPA Probemix ME042 CIMP

Contains probes for the MLH1 gene.

SALSA MLPA Probemix P003 MLH1/MSH2

Contains probes for each exon of MLH1 and MSH2 genes.

View all

Intended purpose

The SALSA MLPA probemix P248 MLH1-MSH2 Confirmation is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the MLH1 and MSH2 genes in genomic DNA isolated from human peripheral whole blood specimens. P248 MLH1-MSH2 Confirmation is intended to confirm a potential cause for and clinical diagnosis of Lynch syndrome, as initially determined using the SALSA MLPA probemix P003 MLH1/MSH2. P248 MLH1-MSH2 Confirmation cannot be used to verify deletions or duplications in EPCAM detected by P003 MLH1/MSH2.

For the full intended purpose, see the product description.

Clinical background

Lynch syndrome, formerly known as hereditary non-polyposis colorectal cancer (HNPCC), is an adult-onset hereditary cancer susceptibility syndrome predisposing to several cancer types, the most prevalent being colorectal cancer, endometrial cancer, ovarian cancer, gastric cancer and small bowel cancer. It is an autosomal dominantly inherited syndrome that is caused by heterozygous germline mutations in one of the four major DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. Another cause of Lynch syndrome is a deletion of the 3’ part of EPCAM, leading to constitutional epigenetic silencing of the downstream MSH2 gene (Lynch et al. 2015). The estimated contribution of the different genes to Lynch syndrome is 15-40% for MLH1, 20-40% for MSH2, 12-35% for MSH6, 5-25% for PMS2 and <10% for EPCAM. More information about Lynch syndrome is available on http://www.ncbi.nlm.nih.gov/books/NBK1211/.

Among the various defects in the MLH1 and MSH2 genes that have been found in patients, deletions and duplications of complete exons are usually missed by standard sequence analysis. The MLPA technique can detect most of these deletions and duplications and therefore complements sequence analysis of the MLH1 and MSH2 genes.

Regulatory status

SALSA MLPA Probemix P248 MLH1-MSH2 Confirmation is CE-marked for in vitro diagnostic (IVD) use.

This assay is for research use only (RUO) in all other territories.

Product documentation

Version B2

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P248-025R
SALSA MLPA Probemix P248 MLH1-MSH2 Confirmation – 25 rxn
MLPA
€ 281.00
P248-050R
SALSA MLPA Probemix P248 MLH1-MSH2 Confirmation – 50 rxn
MLPA
€ 550.00
P248-100R
SALSA MLPA Probemix P248 MLH1-MSH2 Confirmation – 100 rxn
MLPA
€ 1075.00

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
€ 341.00
EK1-Cy5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 341.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK5-Cy5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1571.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6037.00

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 have been tested with the current (B2) version of this product and have been shown to produce useful results.

  • NIBSC Institute: The NIBSC Institute provides a kit with 5 DNA samples containing heterozygous MLH1 or MSH2 exon deletions or amplifications (catalog number 11/218-XXX). These can be used as positive control samples for deletions of MSH2 exons 1-6, MSH2 exon 7, MSH2 exons 1-2, MSH2 exon 1 and amplification of MLH1 exon 13. The quality of cell lines can change; therefore samples should be validated before use.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P248 MLH1-MSH2 Confirmation

  • Alonso-Espinaco V et al. (2011). Novel MLH1 duplication identified in Colombian families with Lynch syndrome. Genet Med. 13:155-60.
  • Bashyam MD et al. (2015). Evidence for presence of mismatch repair gene expression positive Lynch syndrome cases in India. Mol Carcinog. 54:1807-14.
  • Egoavil C et al. (2013). Prevalence of Lynch syndrome among patients with newly diagnosed endometrial cancers. PLoS One. 8:e79737.
  • Guarinos C et al. (2010). EPCAM germ line deletions as causes of Lynch syndrome in Spanish patients. J Mol Diagn. 12:765-70.
  • Magnani G et al. (2015). Molecular Features and Methylation Status in Early Onset (=40 Years) Colorectal Cancer: A Population Based, Case-Control Study. Gastroenterol Res Pract. 2015:132190.
  • Malesci A et al. (2014). Molecular heterogeneity and prognostic implications of synchronous advanced colorectal neoplasia. Br J Cancer. 110:1228-35.
  • Moir-Meyer GL et al. (2015). Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition. Hum Genet. 134:269-78.
  • Schofield L et al. (2009). Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test. Int J Cancer. 124:1097-102.
  • Ziada-Bouchaar H et al. (2017). First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome. Fam Cancer. 16:57-66.

References

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CE

CE-marked products are for In Vitro Diagnostic (IVD) use only in EU (candidate) member states and members of the European Free Trade Association (EFTA), and the UK.