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P003 MLH1/MSH2

SALSA® MLPA® Probemix P003 MLH1/MSH2 detects copy number variations in specific regions of the MLH1, MSH2 and EPCAM genes and a recurrent 10 Mb inversion in chromosome arm 2p.

Specifications

Contents: 50 MLPA probes, including 19 probes for MLH1, 18 probes for MSH2, 2 probes for EPCAM and 2 probes for a recurrent 10 Mb inversion that disrupts MSH2.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: Lynch syndrome (LS).

IVDD certified and registered for in vitro diagnostic (IVD) use in selected territories.

Copy number variations of MLH1 and MSH2 identified with P003 MLH1/MSH2 can be confirmed with P248 MLH1-MSH2 Confirmation.

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List Prices Documentation

Key related products

ME011 Mismatch Repair Genes

Contains MS-MLPA probes for promoter regions of MLH1, MSH2, MSH6 and PMS2 genes.

ME042 CIMP

Contains 31 MS-MLPA targeting the promoter regions of the CACNA1G, CDKN2A, CRABP1, IGF2, MLH1, NEUROG1, RUNX3 and SOCS1 genes.

P008 PMS2

Lynch syndrome: Contains probes for PMS2.

View all

Intended purpose

The SALSA MLPA Probemix P003 MLH1/MSH2 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in specific regions of the MLH1, MSH2 and EPCAM genes, as well as a recurrent 10 Mb inversion on chromosome arm 2p which disrupts the MSH2 gene, in genomic DNA isolated from human peripheral whole blood specimens. P003 MLH1/MSH2 is intended to confirm a potential cause for and clinical diagnosis of Lynch syndrome and for molecular genetic testing of at-risk family members.

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 P003 MLH1/MSH2 is CE-marked under the IVDD for in vitro diagnostic (IVD) use in Europe. This assay has also been registered for IVD use in Colombia and Israel.

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

SALSA Sample DNA for this product

SALSA Binning DNA SD052 is an artificial DNA sample with a signal for all probes in the P003 MLH1/MSH2 probemix. Inclusion of a reaction with SD052 in initial experiments and in experiments following a change in electrophoresis conditions is recommended to aid in the creation of a bin set that links peaks to the probes that produce them. Binning DNA cannot be used as a reference sample in the MLPA data analysis, and cannot be used to quantify the signals of mutation-specific probes.

A vial of SALSA Binning DNA SD052 is included with every order of the P003 MLH1/MSH2 probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version D1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P003-025R
SALSA MLPA Probemix P003 MLH1/MSH2 – 25 rxn
MLPA
€ 286.00
P003-050R
SALSA MLPA Probemix P003 MLH1/MSH2 – 50 rxn
MLPA
€ 560.00
P003-100R
SALSA MLPA Probemix P003 MLH1/MSH2 – 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

Sample DNAs (included)

A vial is included with every order of this probemix, but additional vials can also be purchased separately.

Item no.
Description
Technology
Price
SD052
SALSA Binning DNA SD052 – 6 rxn
MLPA
€ 24.15

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 (D1) 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 P003 MLH1/MSH2

  • Carneiro da Silva F et al. (2015). Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. PLoS One. 10:e0139753.
  • Ikenoue T et al. (2019). Importance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patients. J Hum Genet. 64:1187-94.
  • Keränen A et al. (2018). Testing strategies to reduce morbidity and mortality from Lynch syndrome. Scand J Gastroenterol. 53:1535-40.
  • Lepkes L et al. (2021). Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer. Cancers (Basel). 13:118.
  • Loizidou MA et al. (2014). The mutational spectrum of Lynch syndrome in Cyprus. PLoS One. 9:e105501.
  • Rossi BM et al. (2017). A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. BMC Cancer. 17:623.
  • Rubio I et al. (2016). Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer. Oncology. 91:171-6.
  • Smith MJ et al. (2016). The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes. Hum Mutat. 37:250-6.
  • Tian W et al. (2019). Screening for hereditary cancers in patients with endometrial cancer reveals a high frequency of germline mutations in cancer predisposition genes. Int J Cancer. 145:1290-8.
  • Tsaousis GN et al. (2019). Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations. BMC Cancer. 19:535.

References

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Choose your country to see the products for your location

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.

CO

IVD-registered in Colombia.

IL

IVD-registered in Israel.