Biocartis Launches qPCR POLE/POLD1 Mutational Assay

The assay detects 17 POLE gene point mutations and 1 POLD1 gene point mutations.

Biocartis has launched a fully automated, real-time quantitative polymerase chain reaction (qPCR) assay (Idylla) to detect hypermutated phenotype associated with mutations in POLE and POLD1 in endometrial cancer, according to a news release from the company.¹

Seventeen point mutations in the POLE gene and 1 mutation in the POLD1 gene are detectable with the assay.

“We are pleased to introduce the Idylla POLE-POLD1 Mutation Assay, which empowers laboratories to streamline molecular profiling for endometrial cancer,” stated Roger Moody, chief executive officer of Biocartis, stated in the release.

A multicenter study to retrospectively detect POLE and POLD1 mutations in over 450 endometrial cancer tissue samples compared the accuracy of the mutation assay with next-generation sequencing (NGS), Sanger sequencing, and qPCR. Results of the study were presented at the Association for Molecular Pathology (AMP) 2024 Annual Meeting.

According to the news release, the assay demonstrated 98.2% accuracy.¹ The abstract of the data reported at the AMP 2024 Annual Meeting showed invalid and error rates below 2%.²

The assay is set to reduce turnaround to a window of under 2 hours, with an expected hands-on time of 3 minutes and lab turnaround time of 95 minutes.¹

Per information made available on the Biocartis website, the assay 1x 5 μm formalin-fixed, paraffin-embedded (FFPE) tissue section if the tissue area is 50-600 mm², 1x 10 μm FFPE tissue section if tissue area 25-300 mm², or at least 10% neoplastic cells. If the sample contains less than 10%, macrodissection will be required.³

Since reporting those results, the release noted that Biocartis has added additional POLE and POLD1 mutations, bringing the accuracy of the assay to 99% mutation coverage with 97.2% positive percent agreement and 99.2% negative percent agreement.¹

“The Idylla POLE-POLD1 Mutation Assay has the potential to provide an on-demand, fast, and accurate solution, making molecular testing in endometrial cancer samples easier and more accessible than ever,” noted Sigurd F Lax, professor and head of the Department of Pathology, General Hospital Graz II in Linz, Austria, in the release.

The assay is currently only permitted for use in research settings and is not yet available for diagnostic use.

Reference

1. Press Release Biocartis NV: Biocartis Announces Launch of the Brand-New Idylla™ POLE-POLD1 Mutation Assay. News release. Biocartis NV. April 02, 2025. Accessed April 3, 2025. https://www.globenewswire.com/news-release/2025/04/02/3053920/0/en/Press-Release-Biocartis-NV-Biocartis-Announces-Launch-of-the-Brand-New-Idylla-POLE-POLD1-Mutation-Assay.html
2. Barault, L. et al (2024). The Idylla POLE Mutation Assay: A New Tool for Direct Mutation Detection from FFPE Tissue. The Journal of Molecular Diagnostics, 26(11), S139
3. Idylla^TM POLE-POLD1 Mutation Assay. Biocartis NV. Accessed April 3, 2024. https://www.biocartis.com/en/research/research-assays/idylla-pole-pold1-mutation-assay