Choose your country to see the products for your location

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.

Quick links

List Prices Documentation

Key related products

SALSA MLPA Probemix ME011 Mismatch Repair Genes

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

SALSA MLPA Probemix ME042 CIMP

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

SALSA MLPA Probemix P003 MLH1/MSH2

Lynch syndrome: Contains probes for MLH1 and MSH2.

View all

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

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.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P008 PMS2

  • Antelo M et al. (2015). Pitfalls in the diagnosis of biallelic PMS2 mutations. Fam Cancer. 14:411-4.
  • Borràs E et al. (2013). Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. J Med Genet. 50:552-63.
  • Brea-Fernández AJ et al. (2014). High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families. Clin Genet. 85:583-8.
  • Clendenning M et al. (2013). Detection of large scale 3' deletions in the PMS2 gene amongst Colon-CFR participants: have we been missing anything? Fam Cancer. 12:563-6.
  • Kerkhof J et al. (2017). Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels. J Mol Diagn. 19:905-20.
  • Lagerstedt-Robinson K et al. (2016). Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. Oncol Rep. 36:2823-35.
  • Rey JM et al. (2017). Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing. J Mol Diagn. 19:589-601.
  • Sugano K et al. (2016). Germline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan. Cancer Sci. 107:1677-86.
  • Vaughn CP et al. (2010). Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. Hum Mutat. 31:588-93.
  • Wernstedt A et al. (2012). Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL. Genes Chromosomes Cancer. 51:819-31.

References

  • Herkert JC et al. (2011). Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. Eur J Cancer. 47:965-82.
  • Lynch HT et al. (2015). Milestones of Lynch syndrome: 1895-2015. Nat Rev Cancer. 15:181-94.
  • Wimmer K et al. (2008). Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? Hum Genet. 124:105-22.
  • Wimmer K et al. (2014). Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). J Med Genet. 51:355-65.
This site uses cookies to help improve your online experience. Learn more
No, thank you accept

Sign in

Don't have an account? Create one

Forgot password?

Select Your Country

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.