Clinically significant cancer variants detected by comprehensive genomic profiling test PGDx elio tissue complete

PGDx elio® tissue complete (ETC) is an FDA-cleared kitted IVD class II tumor profiling assay that detects somatic cancer-associated genomic alterations in formalin-fixed paraffin embedded (FFPE) tissue from all solid tumors. ETC is a hybrid capture 505-gene next-generation sequencing (NGS) test that reports single nucleotide variants (SNVs), insertions and deletions (indels), copy number amplifications, translocations, microsatellite instability (MSI), and tumor mutation burden (TMB). Tumor-specific variants are reported based on AMP/ASCO/CAP guideline-supported clinical significance. The size and design of the gene panel enable reporting of recognized variants with evidence of clinical significance across 16 tumor types (bladder, breast, cholangiocarcinoma, CNS, colon, gastric, GIST, IMT, melanoma, NSCLC, ovarian, pancreatic, prostate, rectal, thyroid, uterine), including variants that are indicated for all solid tumors, empowering comprehensive clinical utility. These variant classes include the following: SNVs and/or indels in 36 genes ( AKT1 , ATM , ATR , BARD1 , BRAF , BRCA1 , BRCA2 , BRIP1 , CDK12 , CHEK1 , CHEK2 , EGFR , ERBB2 , ESR1 , FANCA , FANCL , FGFR3 , IDH1 , IDH2 , KRAS , KIT , MET , MLH1 , MRE11A , NBN , NRAS , NTRK3 , PALB2 , PDGFRA , PIK3CA , PTEN , RAD51B , RAD51C , RAD51D , RAD54L , and RET ), translocations in 4 genes ( ALK , RET , NTRK2 , and NTRK3 ), amplifications in ERBB2 , and 2 genomic signatures (MSI and TMB). In addition, resistance mutations in ALK , EGFR , BRAF , KIT , MET , and PTCH1 that impact treatment decisions with targeted therapies are reported. Analytical validation studies assessed the specificity for each variant and the sensitivity, accuracy, and reproducibility for many of them, yielding competitive analytical performance. Clinical validation has been performed for BRAF V600E/K in melanoma, demonstrating comparable performance relative to other on-market FDA-approved companion diagnostic tests. Analysis of real-world evidence for approximately 20,000 cases reveals that ETC detects clinically significant variants at expected rates when compared to available cancer variant databases. ETC, due to its large gene panel, provides a more comprehensive view of patients' mutational profile, enabling physicians to make treatment decisions that are more precisely tailored to individual needs. Overall, these results demonstrate the exceptional performance of ETC in FFPE tissue and the power of comprehensive genomic profiling over single gene tests in standard testing workflows and discovery studies.