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Peutz-Jeghers syndrome (PJS) patients have a greater than 15-fold increased risk of developing malignant epithelial cancers, with most patients showing the first clinical manifestations of the disorder before the age of 30. Copy number variations (CNVs) in the STK11 gene are known to be involved in PJS. However, analysis of this genomic region is hampered due to the extremely high GC content of the DNA which makes complete denaturation challenging.
P101 STK11 is an assay for the detection of deletions in the STK11 gene in genomic DNA isolated from human peripheral whole blood specimens and is intended to confirm a potential cause for Peutz-Jeghers syndrome and for molecular genetic testing of at-risk family members.
P101 STK11, now available on the market under the IVDR, just received a major update, with the recently released C1 version displaying exceptional sensitivity in the detection of any denaturation issues. It features two improved and two newly added denaturation control probes, one target probe replacement, and a complete overhaul of the product's reference probes.