The SALSA MLPA probemix P101 STK11 is an in vitro diagnostic (IVD)1
or research use only (RUO)
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.
Copy number variations (CNVs) detected with P101 STK11 probemix should be confirmed by another technique. In particular, CNVs detected by only a single probe always require confirmation by another method. Most defects in the STK11
gene are point mutations, none of which will be detected by MLPA. It is therefore recommended to use this assay in combination with sequence analysis.
Assay results are intended to be used in conjunction with other clinical and diagnostic findings, consistent with professional standards of practice, including confirmation by alternative methods, clinical genetic evaluation, and counselling, as appropriate. The results of this test should be interpreted by a clinical molecular geneticist or equivalent.
This device is not intended to be used for standalone diagnostic purposes, pre-implantation or prenatal testing, population screening, or for the detection of, or screening for, acquired or somatic genetic aberrations, e.g from DNA extracted from formalin-fixed paraffin embedded (FFPE) or fresh tumour materials.
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).
To be used in combination with a SALSA MLPA Reagent Kit and Coffalyser.Net analysis software.
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.
alterations in PJS patients comprise mainly point mutations and it is estimated that ~15% 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/
The SALSA MLPA Probemix P101-B4 STK11 contains 27 MLPA probes with amplification products between 150 and 391 nucleotides (nt). This includes 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
, and 2 DNA denaturation probes. In addition, 10 reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mrcholland.com
This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mrcholland.com