Improved – P242 Pancreatitis – Now Featuring Mutation-Specific Probes for SPINK1 and PRSS1

SALSA^® MLPA^® Probemix P242 Pancreatitis is an assay for the detection of deletions, duplications or genomic rearrangements in the CTRC, SPINK1, PRSS1 and PRSS2 genes, which are associated with hereditary pancreatitis. This probemix now also detects the presence of the SPINK1 p.N34S (c.101A>G), PRSS1 p.N29I (c.86A>T) and PRSS1 p.R122H (c.365G>A) SNVs.

Hereditary Pancreatitis (HP) is a rare genetic disorder that is frequently linked to the two aforementioned SNVs in the PRSS1 gene which encodes trypsinogen, a digestive enzyme.

In a small subset of cases, copy number changes in PRSS1 play a role in the condition. Gene conversion between PRSS1 and PRSS2 can also occur. Other genes such as SPINK1 and CTRC also play a role, with certain variants increasing susceptibility to pancreatitis, though not always sufficient to cause the disease on their own.

P242 Pancreatitis just received a major update, with the recently released D1 version featuring nine new target probes and three new mutation-specific probes, as well as three replaced target probes and eight replaced reference probes. The updated probe content facilitates enhanced detection of HP-related genetic alterations and improves assay robustness.