Table 2.
Summary and comparison of NGS diagnostic services.
| Company | Product | Disease | Scope of coverage | No. of Genes analyzed | Investigates |
|---|---|---|---|---|---|
| Foundation Medicine | Foundation One | Cancer | Panel | 236 genes, 47 introns from 19 genes associated with rearrangement | Solid tumors–gene alterations, alteration frequency |
| Foundation Medicine | Foundation One Heme | Cancer | Panel | 405 genes from DNA including 31 introns associated with rearrangement, 265 genes from RNA, fusion genes | Hematologic tumors–gene alteration, alteration frequency, fusion genes |
| Personal Genome Diagnostics (PGDX) | Cancer Complete | Cancer | Full exome | ~20,000 | Gene point mutations, copy number alterations (indels), rearrangements |
| PGDX | Cancer Select | cancer | 120 cancer gene panel | 120 | Point mutations, copy number alterations, rearrangements |
| Ambry Genetics | Exome Next | Cancer | Exome | ~20,000 | Mitochondrial genome mutations, sequence variants |
| Ambry Genetics | BRCA1 and BRCA2 gene sequencing | Breast Cancer | BRCA1 and BRCA2 | 2 | Gene sequencing, deletion and duplication, large rearrangements |
| GeneDx | XomeDx | Cancer | Full exome | ~20,000 | Exon analysis |
| GeneDx | XomeDx Plus | Cancer | Exome | 20,000 plus mitochondrial sequencing | Combined test, mitochondrial genome sequencing and deletions |
| GeneDx | XomeDx Slice | Cancer | Exome | targeted test | Targets regions of the exome or specific genes–variant search |
| GeneDx | Comprehensive cancer panel | Cancer | Panel | 29 | Gene sequence, deletions/duplications, gene mutations, nucleotide substitutions |
| NeoGenomics Laboratories | EGFR Mutation Analysis | NSCLC | EGFR exons 18-21 | 1 | Mutations on target exons, duplications/deletions |
| NeoGenomics Laboratories | NeoSITE Melanoma | Cancer | Panel | 5 | Copy number variants, duplications/deletions |
| NeoGenomics Laboratories | FISH for non-small cell lung cancer | NSCLC | Panel | 2 | Rearrangements, fusions |
| NeoGenomics Laboratories | Colorectal Cancer panel | Colorectal Cancer | Panel | 2 | KRAS and BRAF mutations, mismatch repair defects, microsatellite instability at 5 target loci |
| Caris | MI Profile | Cancer | Panel | 47 | Somatic mutations in solid tumors |
| Myriad Genetics | BRCA Analysis | Breast and Ovarian Cancer | BRCA1, BRCA2 | 2 | Gene mutations |
| Quest Diagnostics | OncoVantage | Solid tumors | Panel | 34 | Point mutations, indels |
| GPS@WUSTL | Comprehensive Cancer Gene Set Analysis | Cancer | Panel | 42 | Point mutations, indels |
| Arup Laboratories | Gastrointestinal hereditary cancer panel | Gastrointestinal cancer | Panel | 15 | Targeted capture of coding exons and intron/exon junctions–sequenced for mutation detection, deletion/duplication analysis |