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SALSA® MLPA® Probemix P101 STK11 detects copy number variations in the STK11 gene.
Contents: 27 MLPA probes, including 12 probes for STK11 and 3 probes for genes in the region upstream of STK11.
Tissue: genomic DNA isolated from human peripheral whole blood.
Application: Peutz-Jeghers syndrome (PJS).
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 format of the product description. Some information can now be found in a different location (more information).
The SALSA MLPA probemix P101 STK11 is an in vitro diagnostic (IVD) or research use only (RUO) semiquantitative manual assay for the detection of deletions in the STK11 gene in genomic DNA isolated from human peripheral whole blood specimens. P101 STK11 is intended to confirm a potential cause for Peutz-Jeghers syndrome and for molecular genetic testing of at-risk family members.
For the full intended purpose, see the product description.
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by benign gastrointestinal polyps, hyper-pigmented skin spots, and an increased risk (>15x) of malignant epithelial cancers at various anatomic sites (colorectal, gastric, pancreatic, breast, uterine cervix, and ovarian cancers). The prevalence of this condition is uncertain; estimates range from 1 in 25.000 to 300.000 individuals. The age of onset of symptoms from polyps is variable, with some children developing symptoms within the first few years of life. About one-third of patients with PJS are diagnosed before the age of 10 years and up to 60% of the cases develop their first clinical manifestations before the age of 30 years. The basis of familial PJS is a germline mutation in the STK11 tumour suppressor gene, located in chromosomal region 19p13.3.
STK11 alterations in PJS patients comprise mainly point mutations and it is estimated that ~15-20% of pathogenic mutations in the STK11 gene are attributed to large deletions, which is comparable between PJS populations (Borun et al. 2015, Chow et al. 2006, Orellana et al. 2013).
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1266/.
SALSA MLPA Probemix P101 STK11 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.
We have no information about specific commercially available positive samples that can be used with this product.