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SALSA MLPA Probemix P008 PMS2

SALSA® MLPA® Probemix P008 PMS2 detects copy number variations in the PMS2 gene and/or its pseudogene PMS2CL.

Specifications

Contents: 47 MLPA probes, including 34 for PMS2 and/or its pseudogene PMS2CL: 19 PMS2-specific probes for exons 1 – 11, 5 probes for exons 12 – 15 of PMS2 and the homologous region in PMS2CL, and 10 SNP probes (5 SNP probe pairs) for allelic variants located in the exon 11 – 15 region of PMS2 or the homologous region in PMS2CL.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: Lynch syndrome (LS) or constitutional mismatch repair deficiency (CMMRD) syndrome.

CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.

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Key related products

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Intended purpose

The SALSA MLPA Probemix P008 PMS2 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in exons 1-11 of the PMS2 gene and in exons 12-15 of the PMS2 or PMS2CL genes in genomic DNA isolated from human peripheral whole blood specimens. P008 PMS2 is intended to confirm a potential cause for and clinical diagnosis of Lynch syndrome or constitutional mismatch repair deficiency 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, i.e. MLH1, MSH2, MSH6 or PMS2. Another cause of Lynch syndrome is 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/.

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare inherited childhood cancer syndrome characterized by early-onset colorectal cancers, haematological malignancies, and brain tumours. These malignancies are often associated with features of neurofibromatosis type 1 (NF1), such as café-au-lait macules. CMMRD is caused by bi-allelic, i.e. homozygous or compound heterozygous, germline mutations in MLH1, MSH2, MSH6 or PMS2 (Wimmer and Etzler 2008). Mutations in PMS2 are the most common cause of this recessive condition and are responsible for ~50-60% of the CMMRD cases reported thus far (Herkert et al. 2011; Wimmer et al. 2014).

Among the various defects in the PMS2 gene that have been found in Lynch syndrome and CMMRD patients are deletions and duplications of complete exons, which 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 PMS2 gene.

Regulatory status

SALSA MLPA Probemix P008 PMS2 is CE-marked for in vitro diagnostic (IVD) use. 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 Reference Selection DNA SD082 can be used to aid in the selection of suitable reference samples for the P008 PMS2 probemix. Reference Selection DNA can only be used in initial experiments on DNA samples from healthy individuals from your sample collection with the intention to identify suitable reference samples. SD082 cannot be used as a reference sample in subsequent experiments.

A vial of SALSA Reference Selection DNA SD082 is included with every order of the P008 PMS2 probemix, but it is possible to order additional vials separately.

For more information, see the product description.

Product documentation

Version C1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P008-025R
SALSA MLPA Probemix P008 PMS2 – 25 rxn
MLPA
€ 281.00
P008-050R
SALSA MLPA Probemix P008 PMS2 – 50 rxn
MLPA
€ 550.00
P008-100R
SALSA MLPA Probemix P008 PMS2 – 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

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
SD082
SALSA Reference Selection DNA SD082 – 6 rxn
MLPA
€ 23.70
How to Order

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.

See this support article for commercially available positive samples that have been tested with this product.

Resources

General resources

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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.

CO

IVD-registered in Colombia.

IL

IVD-registered in Israel.