Choose your country to see the products for your location

P158 JPS

SALSA® MLPA® Probemix P158 JPS detects deletions in the BMPR1A and SMAD4 genes, as well as the 10q22-q23 microdeletion.

Specifications

Contents: 51 MLPA probes, including 15 probes for BMPR1A, 15 probes for the SMAD4 region, and 11 probes for the PTEN region.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: juvenile polyposis syndrome (JPS).

IVDR certified for in vitro diagnostic (IVD) use.

Quick links

List Prices Documentation

Key related products

P003 MLH1/MSH2

Contains probes for the MLH1 and MSH2 genes.

P067 PTCH1

Contains probes for the PTCH1 gene.

P072 MSH6-MUTYH

Contains probes for the MSH2 and MUTYH genes.

View all

This product has recently been CE-marked for in vitro diagnostic (IVD) use under the In Vitro Diagnostic Regulation (IVDR; EU 2017/746), which replaces the former CE-marking under the IVD Directive (IVDD; Directive 98/79/EC). This update was accompanied by a change in the intended purpose and a change in format of the product description. Some information can now be found in a different location (more information).

Intended purpose

The SALSA MLPA Probemix P158 JPS is an in vitro diagnostic (IVD) or research use only (RUO) semiquantitative manual assay for the detection of deletions in the BMPR1A and SMAD4 genes, as well as the 10q22-q23 microdeletion, which contains both BMPR1A and PTEN, in genomic DNA isolated from human peripheral whole blood specimens. P158 JPS is intended to confirm a potential cause for and, in the case of inconclusive clinical features, to confirm a clinical diagnosis of Juvenile Polyposis Syndrome (JPS), and for molecular genetic testing of at-risk family members.

For the full intended purpose, see the product description.

Clinical background

Juvenile Polyposis Syndrome (JPS) is defined by the predisposition of those affected by hamartomatous polyps in the gastrointestinal (GI) tract, including the colon, rectum, small intestine, and stomach. The incidence of JPS is estimated between 1:16,000 and 1:100,000 individuals. JPS is inherited in an autosomal dominant manner. Up to 50% of individuals with JPS have an affected parent. Around 50% of probands with JPS have no previous history of polyps in the family and may have the disorder as the result of a de novo pathogenic variant. The term "juvenile" is not indicative of age-of-onset, but rather describes the smooth unruffled appearance of polyps. The polyps vary in size and shape (sessile or pedunculated), but also in number. Most individuals with JPS will have developed several polyps by the age of 20 years; some may have only four or five polyps over their lifetime, whereas others in the same family may have more than 100. If left untreated, the polyps can eventually lead to bleeding and anemia. Most juvenile polyps are benign; however, malignant transformation can occur. The risk for GI cancers in families with JPS ranges from 11% to 86%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, the upper GI tract, and the pancreas have also been reported (Gene Reviews).

Germline point mutations and large deletions in BMPR1A and SMAD4 collectively account for up to 55% of cases with JPS, with approximately 27% caused by pathogenic variants in SMAD4 and 28% in BMPR1A (Gene Reviews). In particular, deletions in SMAD4 and BMPR1A are causative of 4.6% and 4.2% of JPS cases in which a pathogenic variant is detected, respectively (Aretz et al. 2007, Calva-Cerqueira et al. 2009, van Hattem et al. 2008).

Although pathogenic variants in PTEN are commonly associated with Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome, collectively referred to as PTEN hamartoma tumor syndrome (Gene Reviews), 10q22-q23 microdeletions involving complete deletions of BMPR1A and PTEN have been linked to JPS. The phenotype of individuals presenting this typical microdeletion is unclear, as it can be associated with additional clinical features with or without juvenile polyposis or with severe early-onset JPS (Alimi et al. 2015, Breckpot et al. 2012, Calva-Cerqueira et al. 2009, Delnatte et al. 2006, Oliveira et al. 2013, Salviati et al. 2006, van Hattem et al. 2008). Microdeletions have been suggested to cause JPS in 1-3% of cases (Dahdaleh et al. 2012).

Regulatory status

SALSA MLPA Probemix P158 JPS is CE-marked under the IVDR for in vitro diagnostic (IVD) use in Europe.

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

Product documentation

Version D1

Other versions

Contact us for earlier versions.

Translations and Summary of Safety and Performance

Translations of the product description in selected European languages are available upon request. Please contact us or one of our local sales partners. Translations of the MLPA General Protocol in selected languages are available here.

The Summary of Safety and Performance (SSP) is also available upon request.

List prices

Product

Item no.
Description
Technology
Price
P158-025R
SALSA MLPA Probemix P158 JPS – 25 rxn
MLPA
€ 286.00
P158-050R
SALSA MLPA Probemix P158 JPS – 50 rxn
MLPA
€ 560.00
P158-100R
SALSA MLPA Probemix P158 JPS – 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.

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.

Resources

General MLPA resources

MLPA education

Publications

Selected publications using P158 JPS

  • Aretz S et al. (2007). High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 44:702-9.
  • Calva-Cerqueira D et al. (2009). The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Genet. 75:79-85.
  • Cheah PY et al. (2009). Germline bone morphogenesis protein receptor 1A mutation causes colorectal tumorigenesis in hereditary mixed polyposis syndrome. Am J Gastroenterol. 104:3027-33.
  • Menko FH et al. (2008). Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes. Clin Genet. 74:145-54.

References

  • Alimi A et al. (2015). Overlap of Juvenile polyposis syndrome and Cowden syndrome due to de novo chromosome 10 deletion involving BMPR1A and PTEN: implications for treatment and surveillance. Am J Med Genet A. 167:1305-8.
  • Aretz S et al. (2007). High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 44:702-9.
  • Breckpot J et al. (2012). BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome. Eur J Med Genet. 55:12-6.
  • Calva-Cerqueira D et al. (2009). The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Genet. 75:79-85.
  • Dahdaleh FS et al. (2012). Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23. Clin Genet. 81:110-6.
  • Delnatte C et al. (2006). Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet. 78:1066-74.
  • Oliveira PH et al. (2013). Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach. J Pediatr Surg. 48:e33-4.
  • Salviati L et al. (2006). Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy. Am J Hum Genet. 79:593-6; author reply 596-7.
  • Van Hattem WA et al. (2008). Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. Gut. 57:623-7.
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.

CE2797

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.