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SALSA MLPA Probemix P158 JPS

SALSA® MLPA® Probemix P158 JPS detects copy number variations 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 SMAD4 and 11 probes for PTEN, covering all exons of these genes.

Tissue: genomic DNA isolated from human peripheral whole blood.

Application: juvenile polyposis syndrome (JPS).

CE-marked for in vitro diagnostic (IVD) use.

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Intended purpose

The SALSA MLPA Probemix P158 JPS is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications 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 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 characterized by predisposition to hamartomatous polyps (non-malignant tumours, composed of tissue elements normally found at that site) in the gastrointestinal (GI) tract, specifically in the stomach, small intestine, colon, and rectum. The term "juvenile" refers to the type of polyp rather than to the age of onset of polyps. Most individuals with JPS have some 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 a hundred. If the polyps are left untreated, they may cause bleeding and anaemia. Most juvenile polyps are benign; however, malignant transformation can occur. Risk for GI cancers in families with JPS ranges from 9% to 50%. Most of this increased risk is attributed to colon cancer, but cancers of the stomach, upper GI tract, and pancreas have also been reported (NCBI GeneReviews: Juvenile Polyposis Syndrome).

Defects in the genes bone morphogenetic protein receptor type 1A (BMPR1A) and SMAD family member 4 (SMAD4) account for up to 60% of cases with JPS, with approximately 27% caused by defects in SMAD4 and 24% in BMPR1A (Aretz et al. 2007, Calva-Cerqueira et al. 2009, van Hattem et al. 2008). There are reports of two other genes wherein defects could cause JPS, namely endoglin (ENG) and phosphatase and tensin homolog (PTEN). However, to date, defects in ENG have only been reported in two cases and defects in PTEN are thought to underlie Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome, also associated with juvenile polyps (collectively referred to as PTEN hamartoma tumor syndrome), instead of JPS. Lastly, 10q22-q23 microdeletion, involving complete deletions of BMPR1A and PTEN have been described to underlie JPS. However, the reports on the resulting phenotype are inconsistent. In some cases it leads to a severe, early onset form of juvenile polyposis. In other cases it leads to a syndrome suggestive of Cowden syndrome or Bannayan-Riley-Ruvalcaba syndrome.

A combined syndrome of JPS and hereditary haemorrhagic telangiectasia (HHT) (termed JPS/HHT) is thought to be present in most individuals with a SMAD4 pathogenic variant. Studies have suggested that 15-22% of individuals with a pathogenic variant in SMAD4 have this combined type, however this is thought to be an underestimation. While symptoms of JPS are limited to the GI tract, HHT characteristic arterial malformations can, beside the GI tract, be found in the lungs, liver, brain and mucocutaneous tissue. Upon detection of polyps in the GI tract, the arterial malformations are sometimes overlooked by physicians.

An investigation on SMAD4 supports the presence of a pseudogene in a small percentage of individuals, which has the potential to confound the interpretation of genetic testing results, as only mutations in the native gene are clinically significant (Mancini et al. 2015; Millson et al. 2015).

Regulatory status

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

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

Product documentation

Version D1

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P158-025R
SALSA MLPA Probemix P158 JPS – 25 rxn
MLPA
€ 281.00
P158-050R
SALSA MLPA Probemix P158 JPS – 50 rxn
MLPA
€ 550.00
P158-100R
SALSA MLPA Probemix P158 JPS – 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
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.