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SALSA MLPA P225 PTEN probemix

SALSA MLPA Probemix P225 PTEN detects copy number variations in the PTEN gene and the PTEN pseudogene PTENP1.

Specifications

Contents: 49 MLPA probes, including 22 probes for PTEN covering all 9 exons, 2 probes for PTENP1 and 10 flanking probes.

Tissue: genomic DNA isolated from human peripheral whole blood. Research use: genomic DNA from FFPE or fresh tumour tissue.

Application: PTEN hamartoma tumour syndrome (PHTS), which includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome (PLS). Research use: deletions or duplications in PTENP1.

IVDD certified for in vitro diagnostic (IVD) use.

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List Prices Documentation

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Intended purpose

The SALSA MLPA Probemix P225 PTEN is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in PTEN in genomic DNA isolated from human peripheral whole blood specimens. P225 PTEN is intended to confirm a potential cause for and clinical diagnosis of PTEN Hamartoma Tumour Syndrome (PHTS) and for molecular genetic testing of at-risk family members. PHTS includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome (PLS). This probemix can also be used for the detection of deletions or duplications in the PTEN pseudogene (PTENP1) in a research setting.

For the full intended purpose, see the product description.

Clinical background

Phosphatase and tensin homolog (PTEN) is a tumour suppressor gene that is mutated in a large number of cancers at high frequency. Defects in the PTEN gene are the main cause of PTEN Hamartoma Tumour Syndrome (PHTS), which is a dominantly inherited cancer predisposition syndrome, characterized by multiple hamartomas in several areas of the body. PHTS includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome (PLS) (GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK1488/).

CS (OMIM #158350) is inherited in an autosomal dominant manner and comprises 85% of PHTS cases. The incidence of CS is estimated to be 1:200,000. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by their late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The risk for endometrial cancer may approach 28%.

BRRS is inherited in an autosomal dominant manner. It is present at birth and is characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, pigmented macules of the glans penis, intellectual disability (50% of the cases) and development delay. The risk of developing cancer in BRRS patients with a PTEN pathogenic variant is similar to patients with CS.

PS is a highly variable, severe disorder characterized by progressive segmental or patchy overgrowth of diverse tissues of all germ layers, affecting the skeleton, skin, adipose tissue and central nervous systems. PS is a rare condition with an incidence of less than 1 in 1 million people worldwide and is associated with tumours, pulmonary complications, and deep vein thrombosis.

PLS describes individuals that do not meet the diagnostic criteria of Proteus syndrome, but share many of the characteristic signs and symptoms associated with this condition. Inheritance is autosomal dominant in those with a PTEN mutation.

PTENP1 can regulate cellular levels of PTEN (via binding to mRNAs that target PTEN) and thereby suppresses cell growth. It has been shown that PTENP1 is selectively lost in sporadic colon cancer (Poliseno et al. 2010). A specific PTENP1 deletion (not PTEN) was also demonstrated in human melanoma (Poliseno et al. 2011). Furthermore, the importance of PTENP1 as a tumour suppressor has been recently shown in head and neck squamous cell carcinoma (Liu et al. 2017). PTENP1 copy number detection is of great importance in cancer research, however, the clinical validity of this gene is not yet fully established.

Regulatory status

SALSA MLPA P225 PTEN probemix is CE-marked under the IVDD for in vitro diagnostic (IVD) use in Europe.

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

Product documentation

Version E1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P225-025R
SALSA MLPA P225 PTEN probemix – 25 rxn
MLPA
€ 286.00
P225-050R
SALSA MLPA P225 PTEN probemix – 50 rxn
MLPA
€ 560.00
P225-100R
SALSA MLPA P225 PTEN probemix – 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

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

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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).