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SALSA® MLPA® Probemix P158 JPS detects deletions in the BMPR1A and SMAD4 genes, as well as the 10q22-q23 microdeletion.
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.
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).
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.
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).
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.
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.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
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.
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.