GENESEEQPRIME NGS Tumor Profiling Assay (FFPE) (GS6005)

The GENESEEQPRIME NGS Tumor Profiling Assay (FFPE) is a qualitative in vitro diagnostic test that uses next-generation sequencing to detect tumor gene alterations in DNA extracted from formalin-fixed, paraffin-embedded tissue samples. It identifies somatic variants (SNVs, indels), amplifications, translocations, microsatellite instability (MSI), and tumor mutation burden (TMB) across a panel of 425 cancer-related genes to provide mutation profiling information for use by oncologists in treatment decisions.

The device uses hybrid capture technology with the Illumina NextSeq 550Dx sequencer, targeting 425 genes compared to the predicate's 505 genes. It reports four gene translocations (ALK, RET, ROS1, NTRK1) versus the predicate's different set (NTRK2, NTRK3). The assay employs a self-developed machine learning model (ToSeq) to distinguish somatic from germline variants without matched normal samples, and establishes thresholds of 0.4–2% VAF depending on variant type and clinical significance.

Not stated in this summary.

The device is substantially equivalent to the predicate (PGDx elio Tissue Complete, K192063) because both use hybrid capture NGS targeting the same specimen type (FFPE tumor tissue), the same instrument platform (Illumina NextSeq 550Dx), and report the same categories of alterations (SNVs, indels, CNV amplification, translocations, MSI, TMB). Although the gene panel differs in size and some translocation targets, the fundamental intended use, methodology, and performance characteristics are sufficiently similar. Clinical accuracy data demonstrates >92% positive percent agreement for SNVs/indels, >93% for ERBB2 amplification, and >96% for MSI detection, with reproducibility and sensitivity studies confirming reliable performance across laboratories and sample conditions.