* All mutational panels are performed as part of a 169 gene (full-coding) hybrid capture-based next generation sequencing (NGS) assay. Copy number variations (CNVs) (i.e. amplifications, deletions) are reported based on tumor type, pending suitability of the tested material. Samples with insufficient tumor cellularity (percentage) and/or quality may not have CNV information provided. CNVs, when resulted, are included as part of the mutational NGS report and may take the place of FISH (fluorescence in situ hybridization) testing. The absence of CNV data should not be interpreted as a “negative” result. All fusion testing is performed as part of an RNA-based, targeted 53 gene fusion assay.
| Lung Panels | Gastrointestinal (GI) Panels |
Initial presentation/testing Mutations: EGFR, KRAS, BRAF, ERBB2, METex14 Fusions: ALK, METex14, NTRK1/2/3, NRG1, RET, ROS1 FISH (fluorescent in situ hybridization): ERBB2 & MET (amplifications) IHC: PD-L1 (SP263) (if not previously done) | Colorectal Carcinoma Microsatellite instability analysis Mutations: BRAF, KRAS, NRAS, PIK3CA, POLD1, POLE If negative for RAS/RAF, reflex to: FISH: ERBB2 Fusions: NTRK1/2/3, RET If MSI-H and MLH1/PMS2 loss (by IHC), MLH1 promoter hypermethylation |
Resistance to targeted therapy Mutations: BRAF, EGFR, ERBB2, KRAS, METex14 Additional reportables: Kinase-domain relevant mutations in ALK, RET, or ROS1 (as indicated by treatment history) Fusions: ALK, METex14, NRG1, NTRK1/2/3, RET, ROS1 FISH: ERBB2, MET (amplification)* *Immunohistochemical (IHC) studies should be requested from the surgical/cytopathologist associated with the diagnostic report. | Pancreatic Carcinoma Microsatellite instability analysis (requires paired normal tissue) Mutation: BRCA1, BRCA2, KRAS If driver negative, reflex to: Fusions: NRG1, NTRK1/2/3 |
Relatedness of multiple lesions Mutations: All genes in assay (169) Fusion (as appropriate): ALK, METex14, NRG1, NTRK1/2/3, RET, ROS1 | GIST Mutations: BRAF, KIT, NF1, PDGFRA If negative for the above genes, reflex to: Fusions: NTRK1/2/3 |
Rapid EGFR/KRAS/ALK panel * Mutations: Rapid EGFR, Rapid KRAS IHC: ALK, PD-L1 (if not previously done) If negative, will reflex to initial lung panel | Cholangiocarcinoma Fusions: FGFR2/3, ROS1 Mutations: BRAF, IDH1, KRAS Microsatellite instability analysis (requires paired normal tissue) |
Rapid KRAS reflex to panel * Mutations: Rapid KRAS If negative, will reflex to initial lung panel | Gastric/Gastroesophageal/GE junction Carcinoma
Mutations: BRAF, ERBB2, KRAS
Fusions: NTRK1/2/3, RET
Microsatellite instability analysis (requires paired normal tissue)
FISH ERBB2 (If IHC equivocal or not performed) |
| * Rapid panels are offered with the intent of expediting therapy decisions in the setting of severely/acutely ill patients. Rapid testing is performed at the discretion of the molecular pathologist and may be deferred to prioritize more comprehensive testing. | Rapid KRAS (non-NGS) |
| Rapid MSI (available for colorectal carcinomas only) | |
Relatedness of multiple lesions (multiple primary vs metastasis) Mutations: All genes in assay (169)
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| Genitourinary (GU) Panels | |
Urothelial (bladder) Mutations: ERBB2, FGFR2/3, PIK3CA If negative for the above genes, reflex to: Fusions: FGFR1/2/3 | Prostatic Adenocarcinoma/Homologous Recombination Deficiency (HRD)
Microsatellite Instability analysis (requires paired normal tissue)
Mutations: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDK12, CHEK1, CHEK2, FANCL, PALB2, RAD51B, RAD51C, RAD51D
If negative for above genes and MSS, reflex to:
Fusions: NTRK1/2/3, RET |
Renal Cell Carcinoma (RCC)
Mutations: BAP1, PBRM1, SETD2, VHL*
*Priority reportable genes variable depending on differential diagnosis/tumor type suspicion. Other reportable genes include (but are not limited to): ELOC (TCEB1), FH, SDHA/B/C/D, and SMARCB1.
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| Non-lung/Non-GI/Non-GU Panels | |
Melanoma - Cutaneous Mutation: BRAF, KIT, MAP2K1, NF1, NRAS If negative for the above genes, reflex to: Fusions: ALK, BRAF, NTRK1/2/3, ROS1 - Uveal Mutations: GNA11, GNAQ If negative for the above genes, reflex to: Fusions: ALK, BRAF, NTRK1/2/3, ROS1 - Rapid BRAF reflex to panel Mutations: Rapid BRAF If negative, will reflex to appropriate panel above | Glioma Panels
ATRX, BRAF, CDKN2A, EGFR, FGFR1, FGFR2, FGFR3, H3F3A, IDH1, IDH2, NF1, PTEN, TERT
Mutations: ATRX, BRAF, CDKN2A, EGFR, FGFR1, FGFR2, FGFR3, H3F3A, IDH1, IDH2, NF1, PTEN, TERT Fusions: BRAF, FGFR1, FGFR2, FGFR3, NTRK1, NTRK2, NTRK3, RET
Mutations: ATRX, BRAF, EGFR, FGFR1, FGFR2, FGFR3, H3F3A, IDH1, IDH2, NF1, PTEN, TERT FISH: EGFR (gain), PTEN (loss) Option to add or order as standalone test: MGMT promoter methylation |
Desmoid Fibromatosis
Mutations: CTNNB1, APC | Meningioma Panel
Mutations: BAP1, NF2, TERT FISH: 1p & CDKN2A (losses) |
Breast Mutations: AKT1, ERBB2, ESR1, PIK3CA, PTEN
| Endometrial Mutations: CTNNB1, POLE, TP53 If MSI-H and MLH1/PMS2 loss (by IHC), MLH1 promoter hypermethylation
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Thyroid - Differentiated Thyroid Mutations: BRAF, HRAS, NRAS, TERT If driver negative, reflex to: Fusions: NTRK1/2/3, PAX8::PPARg, RET - Anaplastic Thyroid Cancer Rapid BRAF (qPCR) + Mutational panel (to include RAS genes, TERT, etc.) If driver negative, reflex to: Fusions: NTRK1/2/3, PAX8::PPARg, RET - Medullary Thyroid Cancer Mutations: RET |