SALSA MLPA P101 STK11 probemixCE

application: Peutz-Jeghers syndrome (PJS)
region: STK11 19p13.3
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version: B4
sold since: 2017-06-12

item no. description price
P101-025R SALSA MLPA P101 STK11 probemix – 25 rxn € 237
P101-050R SALSA MLPA P101 STK11 probemix – 50 rxn € 474
P101-100R SALSA MLPA P101 STK11 probemix – 100 rxn € 948
EK1-FAM SALSA MLPA EK1 reagent kit – 100 rxn - FAM € 294
EK1-Cy5 SALSA MLPA EK1 reagent kit – 100 rxn - Cy5 € 294
EK5-FAM SALSA MLPA EK5 reagent kit – 500 rxn - FAM € 1355
EK5-Cy5 SALSA MLPA EK5 reagent kit – 500 rxn - Cy5 € 1355

Please note that both a probemix and reagent kit are needed to perform MLPA.

description
Intended use: The SALSA MLPA probemix P101 STK11 is an in vitro diagnostic (IVD)1 or a research use only (RUO) assay for the detection of deletions or duplications in the human STK11 gene, in order to confirm a potential cause and clinical diagnosis for Peutz-Jeghers syndrome. This assay is for use with human DNA extracted from peripheral blood. This product can also be used for molecular genetic testing of at-risk family members.

Deletions or duplications obtained with the P101 STK11 probemix must be confirmed by another technique. In particular, deletions or duplications detected by only a single probe always require validation by another method. Most defects in the STK11 gene are small indel-type mutations, none of which will be detected by MLPA. It is therefore recommended to use this SALSA MLPA probemix in combination with sequence analysis of the STK11 gene. This assay is not intended to be used as a standalone assay for clinical decisions. The results of this test must be interpreted by a clinical molecular geneticist or equivalent.

1 Please note that this probemix is for In Vitro Diagnostic use (IVD) in the countries specified at the end of the product description. In all other countries, the product is for Research Use Only (RUO).

Clinical background: 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 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% of pathogenic mutations in the STK11 gene is attributed to large deletions/duplications, which is comparable between PJS populations (Borun et al. 2015, Chow et al. 2006, Orellana et al. 2013). 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/.

P101-B4 probemix content: This SALSA® MLPA® P101 STK11 probemix contains 27 probes with amplification products between 150 and 391 nt: 12 probes for the STK11 gene (one probe for each exon and three probes for exon 1), 3 probes for genes located upstream of STK11 (CDC34, ELANE and KISS1R), 2 DNA denaturation probes, and 10 reference probes detecting sequences on other chromosomes. The identity of the genes detected by the reference probes is available online (www.mlpa.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity Fragments (Q-fragments), three DNA Denaturation Fragments (D-fragments), and one chromosome X and one chromosome Y-specific fragment (Table 1). The Q-fragments are only visible when less than 100 ng sample DNA is used. Low signal of the 88 or 96 nt fragment indicates incomplete DNA denaturation. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol One-Tube.

product history
version B4: One reference probe has been replaced and the LDLR probe has been replaced by a reference probe.
version B3: One reference probe has been replaced and one flanking probe has been replaced by a reference probe.
version B2: One reference probe is replaced and one is added.
version B1: Two STK11 probes 3 reference probes and 2 control fragments (88 and 96 nt) have been replaced (QDX2). One STK11 exon 1 probe has been removed.
version A2: changes not specified

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