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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).
CE-marked and registered for in vitro diagnostic (IVD) use in selected territories.
The SALSA MLPA probemix P101 STK11 is an in vitro diagnostic (IVD) or research use only (RUO) semi-quantitative assay for the detection of deletions or duplications in the human STK11 gene in genomic DNA isolated from human peripheral whole blood specimens. P101 STK11 is intended to confirm a potential cause of and clinical diagnosis 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/duplications, which is comparable between PJS populations (Borun et al. 2015, Chow et al. 2006, Orellana et al. 2013). The STK11 gene is frequently inactivated by deletions or by point mutations in several cancer types, including lung and cervical cancer, and inactivation is suggested to be associated with disease progression (Ji et al. 2007, Wingo et al. 2009).
More information is available at https://www.ncbi.nlm.nih.gov/books/NBK1266/.
SALSA MLPA Probemix P101 STK11 is CE-marked for in vitro diagnostic (IVD) use. This assay has also been registered for IVD use in Israel.
This assay is for research use only (RUO) in all other territories.
A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).
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.