OnkoSightTM Next Generation Sequencing
OnkoSightTM is GenPath’s proprietary product line of Next-Generation Sequencing (NGS) assays for hematologic malignancies and solid tumors that focuses on only actionable mutations in common cancers. This targeted approach helps personalize patient treatment and management while greatly reducing the number of unclear variants that often occur in the results of broader test panels.
Genes included on OnkoSightTM panels are those with clear therapeutic, diagnostic, or prognostic value and those for which there are late-stage clinical trials available. National guidance-recommended genes are included on each tumor-specific panel.
Click on a gene below to learn more
| OnkoSightTM Solid Tumors Panel (31 genes) | ||||||||
|---|---|---|---|---|---|---|---|---|
| AKT1 | ALK | BRAF | CTNNB1 | DDR2 | EGFR | EPHA2 | ERBB2 | ESR1 |
| FGFR1 | FGFR2 | FGFR3 | GNA11 | GNAQ | HRAS | IDH1 | IDH2 | KIT |
| KRAS | MAP2K1 | MET | MTOR | NOTCH1 | NRAS | PDGFRA | PIK3CA | PTEN |
| RAC1 | RET | ROS1 | TP53 | |||||
| OnkoSightTM Glioma Panel (8 genes) | ||||||||
| BRAF | EGFR | IDH1 | IDH2 | NRAS | PIK3CA | PTEN | TP53 | |
- Gene:
- AKT1
- Exon Coverage:
- 3
- Clinical Utility:
- AKT1 mutations may predict response to AKT1/mTOR inhibitors.
- Gene:
- ALK
- Exon Coverage:
- 20, 22-25
- Clinical Utility:
- Rearrangements of the ALK gene in NSCLC predict therapeutic response to ALK kinase inhibitors, including FDA-approved crizotinib and ceritinib, and resistance to EGFR inhibitors. Secondary ALK mutations and gene amplifications are associated with acquired resistance to crizotinib and variable response to second-generation ALK inhibitors.
- Gene:
- BRAF
- Exon Coverage:
- 11 and 15
- Clinical Utility:
- Some mutations in BRAF predict response to RAF inhibitors in a variety of solid tumors. Therapies targeting BRAF V600-mutated melanoma (vemurafenib, dabrafenib, and trametinib) have been approved by the FDA. BRAF V600E is a negative prognostic marker in colorectal cancers, with resistance to anti-EGFR therapy in some clinical settings.
- Gene:
- CTNNB1
- Exon Coverage:
- 3
- Clinical Utility:
- Activating CTNNB1 mutations may predict response to WNT inhibitors.
- Gene:
- DDR2
- Exon Coverage:
- 5, 8, 13, 15, 17
- Clinical Utility:
- In squamous cell lung cancer, DDR2 mutations may predict response to dasatinib and other receptor tyrosine kinase inhibitors.
- Gene:
- EGFR
- Exon Coverage:
- 7, 12, 15, 18-21
- Clinical Utility:
- Sensitizing EGFR mutations predict response to EGFR TKIs in NSCLC, including FDA-approved TKIs (erlotinib, gefitinib and afatinib), while other mutations predict resistance to first and second generation TKIs.
- Gene:
- EPHA2
- Exon Coverage:
- 5
- Clinical Utility:
- Mutations in EPHA2 are more common in lung cancers with squamous cell histology. EPHA2 mutations have been associated with response to mTOR inhibitor (Rapamycin) in lung SCC.
- Gene:
- ERBB2
- Exon Coverage:
- 19-21
- Clinical Utility:
- Mutations in ERBB2 (HER2) are emerging targets associated with response to anti-HER2 antibody (trastuzumab) or TKI (afatinib) therapy in NSCLC. In breast cancer, ERBB2 over-expression or gene amplification is associated with response to established anti-HER2 targeted therapies.
- Gene:
- ESR1
- Exon Coverage:
- 7, 9, 10
- Clinical Utility:
- Activating mutations in ESR1 are associated with acquired resistance to endocrine therapy in hormone-dependent metastatic breast cancer.
- Gene:
- FGFR1
- Exon Coverage:
- 5, 8
- Clinical Utility:
- Amplification of the FGFR1 gene predicts response to FGFR inhibition in several malignancies.
- Gene:
- FGFR2
- Exon Coverage:
- 7, 9, 12
- Clinical Utility:
- Alterations of FGFR2, including amplification, rearrangements and point mutations, predict response to FGFR inhibition in several malignancies.
- Gene:
- FGFR3
- Exon Coverage:
- 7, 9, 14, 18
- Clinical Utility:
- Alterations of FGFR3, including amplification, rearrangements and point mutations, predict response to FGFR inhibition in several malignancies.
- Gene:
- GNA11
- Exon Coverage:
- 5
- Clinical Utility:
- Somatic mutations in either GNA11 or GNAQ genes are identified in the majority of uveal melanoma cases.
- Gene:
- GNAQ
- Exon Coverage:
- 5
- Clinical Utility:
- Somatic mutations in either GNA11 or GNAQ genes are identified in the majority of uveal melanoma cases.
- Gene:
- HRAS
- Exon Coverage:
- 2, 3
- Clinical Utility:
- RAS mutations have a high positive predictive value for malignancy in thyroid tumors, and aid in diagnosis of follicular thyroid lesions.
- Gene:
- IDH1
- Exon Coverage:
- 4
- Clinical Utility:
- IDH (IDH1 and IDH2) mutations are more prevalent in low grade diffuse gliomas and in secondary glioblastomas, they are associated with improved prognosis in low grade gliomas, and may predict response to therapy (IDH inhibitors, temolozomide).
- Gene:
- IDH2
- Exon Coverage:
- 4
- Clinical Utility:
- IDH (IDH1 and IDH2) mutations are more prevalent in low grade diffuse gliomas and in secondary glioblastomas, they are associated with improved prognosis in low grade gliomas, and may predict response to therapy (IDH inhibitors, temolozomide).
- Gene:
- KIT
- Exon Coverage:
- 9, 11, 13, 14, 17, 18
- Clinical Utility:
- In GISTs, KIT mutations predict response to TKIs (imatinib, sunitinib), with secondary mutations associated with resistance. In metastatic melanoma cases, limited response to imatinib has been reported.
- Gene:
- KRAS
- Exon Coverage:
- 2, 3, 4
- Clinical Utility:
- KRAS mutations in mCRC are predictive of lack of benefit to anti-EGFR therapeutic agents (cetuximab, panitumumab). In NSCLC, KRAS mutations are associated with primary EGFR TKI resistance.
- Gene:
- MAP2K1
- Exon Coverage:
- 2, 3, 6
- Clinical Utility:
- MAP2K1 mutations may confer resistance to BRAF and MEK inhibitors.
- Gene:
- MET
- Exon Coverage:
- 2, 14, 16, 19
- Clinical Utility:
- MET alterations in solid tumors, including amplification and mutations, may predict response to MET inhibitors. MET amplification has been associated with acquired resistance to anti-EGFR TKIs in lung cancer.
- Gene:
- MTOR
- Exon Coverage:
- 44, 53
- Clinical Utility:
- Activating mTOR mutations may predict response to mTOR inhibitors, while secondary mutations may confer acquired resistance.
- Gene:
- NOTCH1
- Exon Coverage:
- 26
- Clinical Utility:
- NOTCH1 mutations may be associated with poor prognosis in a subset of NSCLC. NOTCH1 may contribute to TKI resistance in NSCLC.
- Gene:
- NRAS
- Exon Coverage:
- 2, 3, 4
- Clinical Utility:
- NRAS mutations in mCRC are predictive of lack of benefit to anti-EGFR therapeutic agents (cetuximab, panitumumab), and may predict response to MEK inhibitors in metastatic melanoma.
- Gene:
- PDGFRA
- Exon Coverage:
- 12, 14, 15, 18
- Clinical Utility:
- PDGFRA mutations predict response to TKIs (imatinib, sunitinib).
- Gene:
- PIK3CA
- Exon Coverage:
- 2, 3, 6, 10, 21
- Clinical Utility:
- Mutations in PIK3CA may predict response to PI3K/AKT/mTOR inhibitors.
- Gene:
- PTEN
- Exon Coverage:
- 9-2
- Clinical Utility:
- Mutations in PTEN may predict response to PI3K/AKT/mTOR inhibitors.
- Gene:
- RAC1
- Exon Coverage:
- 2
- Clinical Utility:
- RAC1 mutations have been reported to confer resistance to RAF inhibition in melanoma patients.
- Gene:
- RET
- Exon Coverage:
- 10, 11, 13, 15, 16
- Clinical Utility:
- RET abnormalities, including rearrangements and mutations, predict response to multi-kinase inhibitors. RET point mutations have been associated with adverse prognosis in sporadic medullary thyroid carcinomas.
- Gene:
- ROS1
- Exon Coverage:
- 38
- Clinical Utility:
- ROS1 translocations predict therapeutic response to crizotinib in NSCLC, while secondary point mutations have been associated with acquired resistance.
- Gene:
- TP53
- Exon Coverage:
- 2, 4-11
- Clinical Utility:
- Somatic mutations in the TP53 gene are found in the majority of human cancers, and are generally associated with adverse prognostic characteristics in a number of tumor types.
- Gene:
- BRAF
- Exon Coverage:
- 11 and 15
- Clinical Utility:
- Some mutations in BRAF predict response to RAF inhibitors in a variety of solid tumors. Therapies targeting BRAF V600-mutated melanoma (vemurafenib, dabrafenib, and trametinib) have been approved by the FDA. BRAF V600E is a negative prognostic marker in colorectal cancers, with resistance to anti-EGFR therapy in some clinical settings.
- Gene:
- EGFR
- Exon Coverage:
- 7, 12, 15, 18-21
- Clinical Utility:
- Sensitizing EGFR mutations predict response to EGFR TKIs in NSCLC, including FDA-approved TKIs (erlotinib, gefitinib and afatinib), while other mutations predict resistance to first and second generation TKIs.
- Gene:
- IDH1
- Exon Coverage:
- 4
- Clinical Utility:
- IDH (IDH1 and IDH2) mutations are more prevalent in low grade diffuse gliomas and in secondary glioblastomas, they are associated with improved prognosis in low grade gliomas, and may predict response to therapy (IDH inhibitors, temolozomide).
- Gene:
- IDH2
- Exon Coverage:
- 4
- Clinical Utility:
- IDH (IDH1 and IDH2) mutations are more prevalent in low grade diffuse gliomas and in secondary glioblastomas, they are associated with improved prognosis in low grade gliomas, and may predict response to therapy (IDH inhibitors, temolozomide).
- Gene:
- NRAS
- Exon Coverage:
- 2, 3
- Clinical Utility:
- NRAS mutations in mCRC are predictive of lack of benefit to anti-EGFR therapeutic agents (cetuximab, panitumumab), and may predict response to MEK inhibitors in metastatic melanoma.
- Gene:
- PIK3CA
- Exon Coverage:
- 2, 3, 6, 10, 21
- Clinical Utility:
- Mutations in PIK3CA may predict response to PI3K/AKT/mTOR inhibitors.
- Gene:
- PTEN
- Exon Coverage:
- 9-2
- Clinical Utility:
- Mutations in PTEN may predict response to PI3K/AKT/mTOR inhibitors.
- Gene:
- TP53
- Exon Coverage:
- 2, 4-11
- Clinical Utility:
- Somatic mutations in the TP53 gene are found in the majority of human cancers, and are generally associated with adverse prognostic characteristics in a number of tumor types.
| OnkoSightTM Lung Cancer Panel (18 genes) | ||||||||
|---|---|---|---|---|---|---|---|---|
| AKT1 | ALK | BRAF | DDR2 | EGFR | EPHA2 | ERBB2 | FGFR1 | FGFR2 |
| FGFR3 | KRAS | MAP2K1 | MET | NRAS | PIK3CA | RET | ROS1 | TP53 |
| OnkoSightTM Colorectal Cancer Panel (7 genes) | ||||||||
| AKT1 | BRAF | EGFR | KRAS | MAP2K1 | NRAS | PIK3CA | ||
| OnkoSightTM Melanoma Panel (7 genes) | ||||||||
| BRAF | CTNNB1 | GNA11 | GNAQ | KIT | MAP2K1 | NRAS | ||
- Gene:
- AKT1
- Exon Coverage:
- 3
- Clinical Utility:
- AKT1 mutations may predict response to AKT1/mTOR inhibitors.
- Gene:
- ALK
- Exon Coverage:
- 20, 22-25
- Clinical Utility:
- Rearrangements of the ALK gene in NSCLC predict therapeutic response to ALK kinase inhibitors, including FDA-approved crizotinib and ceritinib, and resistance to EGFR inhibitors. Secondary ALK mutations and gene amplifications are associated with acquired resistance to crizotinib and variable response to second-generation ALK inhibitors.
- Gene:
- BRAF
- Exon Coverage:
- 11 and 15
- Clinical Utility:
- Some mutations in BRAF predict response to RAF inhibitors in a variety of solid tumors. Therapies targeting BRAF V600-mutated melanoma (vemurafenib, dabrafenib, and trametinib) have been approved by the FDA. BRAF V600E is a negative prognostic marker in colorectal cancers, with resistance to anti-EGFR therapy in some clinical settings.
- Gene:
- DDR2
- Exon Coverage:
- 5, 8, 13, 15, 17
- Clinical Utility:
- In squamous cell lung cancer, DDR2 mutations may predict response to dasatinib and other receptor tyrosine kinase inhibitors.
- Gene:
- EGFR
- Exon Coverage:
- 7, 12, 15, 18-21
- Clinical Utility:
- Sensitizing EGFR mutations predict response to EGFR TKIs in NSCLC, including FDA-approved TKIs (erlotinib, gefitinib and afatinib), while other mutations predict resistance to first and second generation TKIs.
- Gene:
- EPHA2
- Exon Coverage:
- 5
- Clinical Utility:
- Mutations in EPHA2 are more common in lung cancers with squamous cell histology. EPHA2 mutations have been associated with response to mTOR inhibitor (Rapamycin) in lung SCC.
- Gene:
- ERBB2
- Exon Coverage:
- 19-21
- Clinical Utility:
- Mutations in ERBB2 (HER2) are emerging targets associated with response to anti-HER2 antibody (trastuzumab) or TKI (afatinib) therapy in NSCLC. In breast cancer, ERBB2 over-expression or gene amplification is associated with response to established anti-HER2 targeted therapies.
- Gene:
- FGFR1
- Exon Coverage:
- 5, 8
- Clinical Utility:
- Amplification of the FGFR1 gene predicts response to FGFR inhibition in several malignancies.
- Gene:
- FGFR2
- Exon Coverage:
- 7, 9, 12
- Clinical Utility:
- Alterations of FGFR2, including amplification, rearrangements and point mutations, predict response to FGFR inhibition in several malignancies.
- Gene:
- FGFR3
- Exon Coverage:
- 7, 9, 14, 18
- Clinical Utility:
- Alterations of FGFR3, including amplification, rearrangements and point mutations, predict response to FGFR inhibition in several malignancies.
- Gene:
- KRAS
- Exon Coverage:
- 2, 3, 4
- Clinical Utility:
- KRAS mutations in mCRC are predictive of lack of benefit to anti-EGFR therapeutic agents (cetuximab, panitumumab). In NSCLC, KRAS mutations are associated with primary EGFR TKI resistance.
- Gene:
- MAP2K1
- Exon Coverage:
- 2, 3, 6
- Clinical Utility:
- MAP2K1 mutations may confer resistance to BRAF and MEK inhibitors.
- Gene:
- MET
- Exon Coverage:
- 2, 14, 16, 19
- Clinical Utility:
- MET alterations in solid tumors, including amplification and mutations, may predict response to MET inhibitors. MET amplification has been associated with acquired resistance to anti-EGFR TKIs in lung cancer.
- Gene:
- NRAS
- Exon Coverage:
- 2, 3, 4
- Clinical Utility:
- NRAS mutations in mCRC are predictive of lack of benefit to anti-EGFR therapeutic agents (cetuximab, panitumumab), and may predict response to MEK inhibitors in metastatic melanoma.
- Gene:
- PIK3CA
- Exon Coverage:
- 2, 3, 6, 10, 21
- Clinical Utility:
- Mutations in PIK3CA may predict response to PI3K/AKT/mTOR inhibitors.
- Gene:
- RET
- Exon Coverage:
- 10, 11, 13, 15, 16
- Clinical Utility:
- RET abnormalities, including rearrangements and mutations, predict response to multi-kinase inhibitors. RET point mutations have been associated with adverse prognosis in sporadic medullary thyroid carcinomas.
- Gene:
- ROS1
- Exon Coverage:
- 38
- Clinical Utility:
- ROS1 translocations predict therapeutic response to crizotinib in NSCLC, while secondary point mutations have been associated with acquired resistance.
- Gene:
- TP53
- Exon Coverage:
- 2, 4-11
- Clinical Utility:
- Somatic mutations in the TP53 gene are found in the majority of human cancers, and are generally associated with adverse prognostic characteristics in a number of tumor types.
- Gene:
- AKT1
- Exon Coverage:
- 3
- Clinical Utility:
- AKT1 mutations may predict response to AKT1/mTOR inhibitors.
- Gene:
- BRAF
- Exon Coverage:
- 11 and 15
- Clinical Utility:
- Some mutations in BRAF predict response to RAF inhibitors in a variety of solid tumors. Therapies targeting BRAF V600-mutated melanoma (vemurafenib, dabrafenib, and trametinib) have been approved by the FDA. BRAF V600E is a negative prognostic marker in colorectal cancers, with resistance to anti-EGFR therapy in some clinical settings.
- Gene:
- EGFR
- Exon Coverage:
- 7, 12, 15, 18-21
- Clinical Utility:
- Sensitizing EGFR mutations predict response to EGFR TKIs in NSCLC, including FDA-approved TKIs (erlotinib, gefitinib and afatinib), while other mutations predict resistance to first and second generation TKIs.
- Gene:
- KRAS
- Exon Coverage:
- 2, 3, 4
- Clinical Utility:
- KRAS mutations in mCRC are predictive of lack of benefit to anti-EGFR therapeutic agents (cetuximab, panitumumab). In NSCLC, KRAS mutations are associated with primary EGFR TKI resistance.
- Gene:
- MAP2K1
- Exon Coverage:
- 2, 3, 6
- Clinical Utility:
- MAP2K1 mutations may confer resistance to BRAF and MEK inhibitors.
- Gene:
- NRAS
- Exon Coverage:
- 2, 3, 4
- Clinical Utility:
- NRAS mutations in mCRC are predictive of lack of benefit to anti-EGFR therapeutic agents (cetuximab, panitumumab), and may predict response to MEK inhibitors in metastatic melanoma.
- Gene:
- PIK3CA
- Exon Coverage:
- 2, 3, 6, 10, 21
- Clinical Utility:
- Mutations in PIK3CA may predict response to PI3K/AKT/mTOR inhibitors.
- Gene:
- BRAF
- Exon Coverage:
- 11 and 15
- Clinical Utility:
- Some mutations in BRAF predict response to RAF inhibitors in a variety of solid tumors. Therapies targeting BRAF V600-mutated melanoma (vemurafenib, dabrafenib, and trametinib) have been approved by the FDA. BRAF V600E is a negative prognostic marker in colorectal cancers, with resistance to anti-EGFR therapy in some clinical settings.
- Gene:
- CTNNB1
- Exon Coverage:
- 3
- Clinical Utility:
- Activating CTNNB1 mutations may predict response to WNT inhibitors.
- Gene:
- GNA11
- Exon Coverage:
- 5
- Clinical Utility:
- Somatic mutations in either GNA11 or GNAQ genes are identified in the majority of uveal melanoma cases.
- Gene:
- GNAQ
- Exon Coverage:
- 5
- Clinical Utility:
- Somatic mutations in either GNA11 or GNAQ genes are identified in the majority of uveal melanoma cases.
- Gene:
- KIT
- Exon Coverage:
- 9, 11, 13, 14, 17, 18
- Clinical Utility:
- In GISTs, KIT mutations predict response to TKIs (imatinib, sunitinib), with secondary mutations associated with resistance. In metastatic melanoma cases, limited response to imatinib has been reported.
- Gene:
- MAP2K1
- Exon Coverage:
- 2, 3, 6
- Clinical Utility:
- MAP2K1 mutations may confer resistance to BRAF and MEK inhibitors.
- Gene:
- NRAS
- Exon Coverage:
- 2, 3, 4
- Clinical Utility:
- NRAS mutations in mCRC are predictive of lack of benefit to anti-EGFR therapeutic agents (cetuximab, panitumumab), and may predict response to MEK inhibitors in metastatic melanoma.
TUMOR-SPECIFIC PANELS
Click on a gene below to learn more
| OnkoSightTM Myeloid Malignancies (37 genes) | ||||||||
|---|---|---|---|---|---|---|---|---|
| ABL1 | ASXL1 | BCOR | BCORL1 | BRAF | CALR | CBL | CDKN2A | CSF3R |
| DNMT3A | ETV6 | EZH2 | FBXW7 | FLT3 | GATA2 | HRAS | IDH1 | IDH2 |
| JAK2 | KIT | KRAS | MPL | MYD88 | NPM1 | NRAS | PHF6 | PTEN |
| PTPN11 | RUNX1 | SETBP1 | SF3B1 | SRSF2 | TET2 | TP53 | U2AF1 | WT1 |
| ZRSR2 | ||||||||
- Gene:
- ABL1
- Exon Coverage:
- 4, 5, 6
- Clinical Utility:
- Point mutations in the ABL1 tyrosine kinase domain (KD) of the BCR-ABL1 oncogene and amplification of the fusion gene are the most frequent mechanisms of resistance to tyrosine kinase inhibitor (TKI) therapy.
- Gene:
- ASXL1
- Exon Coverage:
- 12
- Clinical Utility:
- ASXL1 mutations are generally associated with adverse prognosis in myeloid malignancies.
- Gene:
- BCOR
- Exon Coverage:
- 2-15
- Clinical Utility:
- Mutations in the BCOR gene tend to be associated with poor prognostic features.
- Gene:
- BCORL1
- Exon Coverage:
- 1-12
- Clinical Utility:
- BCORL1 mutations have been reported in a low proportion of myeloid neoplasms.
- Gene:
- BRAF
- Exon Coverage:
- 15
- Clinical Utility:
- The BRAF V600E mutation is a molecular marker of HCL, and presents a target for therapy with vemurafenib or other RAF inhibitors in refractory disease.
- Gene:
- CALR
- Exon Coverage:
- 9
- Clinical Utility:
- Somatic mutations in CALR have been identified in over 70%-80% of patients with JAK2/MPL-unmutated MPN, including ET and PMF, but generally not in PV, aiding in diagnostic discrimination of MPN. CALR mutations may be associated with favorable clinical characteristics and prognosis in PMF.
- Gene:
- CBL
- Exon Coverage:
- 8, 9
- Clinical Utility:
- Somatic mutations in CBL have been reported most frequently in CMML and JMML.
- Gene:
- CDKN2A
- Exon Coverage:
- 1, 2
- Clinical Utility:
- Loss of CDKN2A is common in lymphoid neoplasms, has prognostic implications in some malignancies, and presents a therapeutic target for CDK4/6 inhibitors.
- Gene:
- CSF3R
- Exon Coverage:
- 14-17
- Clinical Utility:
- Somatic mutations in CSF3R have been reported in over 80% of CNL cases and, less frequently in aCML, and may predict response to JAK1/2 inhibition.
- Gene:
- DNMT3A
- Exon Coverage:
- 2-23
- Clinical Utility:
- Mutations in DNMT3A have been associated with poor prognosis in subsets of MDS and AML, depending on the clinical and molecular context. Patients with DNMT3A-mutated AML have an inferior survival when treated with standard dose induction therapy and should be considered for high-dose induction therapy.
- Gene:
- ETV6
- Exon Coverage:
- 1-8
- Clinical Utility:
- ETV6 mutations are associated with poor prognosis in MDS.
- Gene:
- EZH2
- Exon Coverage:
- 2-20
- Clinical Utility:
- EZH2 mutations correlate with adverse outcomes in myeloid disorders (MDS, CMML, PMF).
- Gene:
- FBXW7
- Exon Coverage:
- 9-11
- Clinical Utility:
- Mutations in the FBXW7 tumor suppressor have been observed in some hematological malignancies, including CLL and T-ALL.
- Gene:
- FLT3
- Exon Coverage:
- 13-15, 20
- Clinical Utility:
- Internal tandem duplications in FLT3 (FLT3-ITD) along with other activating mutations are associated with an adverse prognosis in AML patients presenting with a normal karyotype. FLT3 mutations are a target for therapeutic agents.
- Gene:
- GATA2
- Exon Coverage:
- 2-4, 6
- Clinical Utility:
- Mutations in the GATA2 transcription factor have been reported in a variety of myeloid neoplasms, including CML and CEBPA-mutated AML.
- Gene:
- HRAS
- Exon Coverage:
- 2, 3
- Clinical Utility:
- RAS pathway mutations present a target for MEK inhibition in hematological cancers.
- Gene:
- IDH1
- Exon Coverage:
- 4
- Clinical Utility:
- IDH (IDH1 and IDH2) mutations are more prevalent in low grade diffuse gliomas and in secondary glioblastomas, they are associated with improved prognosis in low grade gliomas, and may predict response to therapy (IDH inhibitors, temolozomide).
- Gene:
- IDH2
- Exon Coverage:
- 4
- Clinical Utility:
- IDH (IDH1 and IDH2) mutations are more prevalent in low grade diffuse gliomas and in secondary glioblastomas, they are associated with improved prognosis in low grade gliomas, and may predict response to therapy (IDH inhibitors, temolozomide).
- Gene:
- JAK2
- Exon Coverage:
- 12, 14
- Clinical Utility:
- JAK2 mutations are incorporated into diagnostic algorithms of Ph-negative MPNs, with implications for prognosis and treatment response.
- Gene:
- KIT
- Exon Coverage:
- 2, 8-11, 13, 17
- Clinical Utility:
- Mutations in c-KIT are recurrent in core-binding-factor (CBF) AML and systemic mastocytosis, and impact diagnosis, prognosis, and therapeutic guidance and prediction of response to TKIs.
- Gene:
- KRAS
- Exon Coverage:
- 2, 3
- Clinical Utility:
- RAS mutations are highly prevalent in myeloid malignancies, and are a target for MEK inhibition in hematological cancers.
- Gene:
- MPL
- Exon Coverage:
- 10
- Clinical Utility:
- Mutations in MPL contribute to the diagnostic and prognostic classification of MPNs.
- Gene:
- MYD88
- Exon Coverage:
- 3-5
- Clinical Utility:
- MYD88 mutations may aid in differential diagnosis of DLBCL and LPL and may predict response to therapy (ibrutinib).
- Gene:
- NPM1
- Exon Coverage:
- 11
- Clinical Utility:
- NPM1 mutational status is utilized in prognostic stratification in AML.
- Gene:
- NRAS
- Exon Coverage:
- 2, 3
- Clinical Utility:
- NRAS mutations in mCRC are predictive of lack of benefit to anti-EGFR therapeutic agents (cetuximab, panitumumab), and may predict response to MEK inhibitors in metastatic melanoma.
- Gene:
- PHF6
- Exon Coverage:
- 2-10
- Clinical Utility:
- PHF6 mutations have been associated with reduced overall survival in AML.
- Gene:
- PTEN
- Exon Coverage:
- 5, 7
- Clinical Utility:
- Somatic mutations in PTEN have been reported in hematological malignancies, including T-ALL and, infrequently, AML.
- Gene:
- PTPN11
- Exon Coverage:
- 3, 13
- Clinical Utility:
- Mutations in PTPN11 occur in several types of hematologic malignancies, most frequently in patients with JMML.
- Gene:
- RUNX1
- Exon Coverage:
- 2-9
- Clinical Utility:
- RUNX1 mutations are associated with poor prognosis in MDS and with adverse clinical characteristics in AML.
- Gene:
- SETBP1
- Exon Coverage:
- 4
- Clinical Utility:
- Somatic mutations in SETBP1 occur in a variety of myeloid malignancies, are common in aCML, and are associated with disease progression and adverse clinical characteristics.
- Gene:
- SF3B1
- Exon Coverage:
- 13-16
- Clinical Utility:
- SF3B1 gene mutations have been reported in MDS, including the vast majority of cases with the ring sideroblasts phenotype, and are associated with favorable prognosis.
- Gene:
- SRSF2
- Exon Coverage:
- 1
- Clinical Utility:
- Mutations in SRSF2 occur in a variety of myeloid neoplasms and are generally associated with poor prognostic impact.
- Gene:
- TET2
- Exon Coverage:
- 3-11
- Clinical Utility:
- TET2 is frequently deleted or mutated in myeloid malignancies, may have adverse prognostic impact in AML, and may be predictive of a response to hypomethylating agents in MDS.
- Gene:
- TP53
- Exon Coverage:
- 2-11
- Clinical Utility:
- Somatic TP53 mutations are generally associated with poor prognosis in myeloid neoplasms, and may modulate treatment response in low-risk MDS.
- Gene:
- U2AF1
- Exon Coverage:
- 2, 6
- Clinical Utility:
- Mutations in the U2AF1 have been associated with an increased rate of leukemic transformation in MDS.
- Gene:
- WT1
- Exon Coverage:
- 7, 9
- Clinical Utility:
- Mutations in WT1 have been associated with adverse prognosis in AML.
- Gene:
- ZRSR2
- Exon Coverage:
- 1-11
- Clinical Utility:
- Mutations in ZRSR2 are recurrent mutations in myeloid neoplasms.
| OnkoSightTM MPN Panel (17 genes) | ||||||||
|---|---|---|---|---|---|---|---|---|
| ABL1 | ASXL1 | CALR | CBL | CSF3R | DNMT3A | EZH2 | IDH1 | IDH2 |
| JAK2 | KIT | MPL | SETBP1 | SF3B1 | SRSF2 | TP53 | U2AF1 | |
| OnkoSightTM MPN Diagnostic Panel (3 genes) | ||||||||
| CALR | JAK2 | MPL | ||||||
| OnkoSightTM MDS Panel (18 genes) | ||||||||
| ASXL1 | BCOR | CBL | DNMT3A | ETV6 | EZH2 | JAK2 | KRAS | NRAS |
| PTPN11 | RUNX1 | SETBP1 | SF3B1 | SRSF2 | TET2 | TP53 | U2AF1 | ZRSR2 |
| OnkoSightTM AML Panel (17 genes) | ||||||||
| ASXL1 | BCOR | DNMT3A | EZH2 | FLT3 | IDH1 | IDH2 | KIT | KRAS |
| NPM1 | NRAS | PHF6 | PTPN11 | RUNX1 | TET2 | TP53 | WT1 | |
- Gene:
- ABL1
- Exon Coverage:
- 4, 5, 6
- Clinical Utility:
- Point mutations in the ABL1 tyrosine kinase domain (KD) of the BCR-ABL1 oncogene and amplification of the fusion gene are the most frequent mechanisms of resistance to tyrosine kinase inhibitor (TKI) therapy.
- Gene:
- ASXL1
- Exon Coverage:
- 12
- Clinical Utility:
- ASXL1 mutations are generally associated with adverse prognosis in myeloid malignancies.
- Gene:
- CALR
- Exon Coverage:
- 9
- Clinical Utility:
- Somatic mutations in CALR have been identified in over 70%-80% of patients with JAK2/MPL-unmutated MPN, including ET and PMF, but generally not in PV, aiding in diagnostic discrimination of MPN. CALR mutations may be associated with favorable clinical characteristics and prognosis in PMF.
- Gene:
- CBL
- Exon Coverage:
- 8, 9
- Clinical Utility:
- Somatic mutations in CBL have been reported most frequently in CMML and JMML.
- Gene:
- CSF3R
- Exon Coverage:
- 14-17
- Clinical Utility:
- Somatic mutations in CSF3R have been reported in over 80% of CNL cases and, less frequently in aCML, and may predict response to JAK1/2 inhibition.
- Gene:
- DNMT3A
- Exon Coverage:
- 2-23
- Clinical Utility:
- Mutations in DNMT3A have been associated with poor prognosis in subsets of MDS and AML, depending on the clinical and molecular context. Patients with DNMT3A-mutated AML have an inferior survival when treated with standard dose induction therapy and should be considered for high-dose induction therapy.
- Gene:
- EZH2
- Exon Coverage:
- 2-20
- Clinical Utility:
- EZH2 mutations correlate with adverse outcomes in myeloid disorders (MDS, CMML, PMF).
- Gene:
- IDH1
- Exon Coverage:
- 4
- Clinical Utility:
- IDH (IDH1 and IDH2) mutations are more prevalent in low grade diffuse gliomas and in secondary glioblastomas, they are associated with improved prognosis in low grade gliomas, and may predict response to therapy (IDH inhibitors, temolozomide).
- Gene:
- IDH2
- Exon Coverage:
- 4
- Clinical Utility:
- IDH (IDH1 and IDH2) mutations are more prevalent in low grade diffuse gliomas and in secondary glioblastomas, they are associated with improved prognosis in low grade gliomas, and may predict response to therapy (IDH inhibitors, temolozomide).
- Gene:
- JAK2
- Exon Coverage:
- 12, 14
- Clinical Utility:
- JAK2 mutations are incorporated into diagnostic algorithms of Ph-negative MPNs, with implications for prognosis and treatment response.
- Gene:
- KIT
- Exon Coverage:
- 2, 8-11, 13, 17
- Clinical Utility:
- Mutations in c-KIT are recurrent in core-binding-factor (CBF) AML and systemic mastocytosis, and impact diagnosis, prognosis, and therapeutic guidance and prediction of response to TKIs.
- Gene:
- MPL
- Exon Coverage:
- 10
- Clinical Utility:
- Mutations in MPL contribute to the diagnostic and prognostic classification of MPNs.
- Gene:
- SETBP1
- Exon Coverage:
- 4
- Clinical Utility:
- Somatic mutations in SETBP1 occur in a variety of myeloid malignancies, are common in aCML, and are associated with disease progression and adverse clinical characteristics.
- Gene:
- SF3B1
- Exon Coverage:
- 13-16
- Clinical Utility:
- SF3B1 gene mutations have been reported in MDS, including the vast majority of cases with the ring sideroblasts phenotype, and are associated with favorable prognosis.
- Gene:
- SRSF2
- Exon Coverage:
- 1
- Clinical Utility:
- Mutations in SRSF2 occur in a variety of myeloid neoplasms and are generally associated with poor prognostic impact.
- Gene:
- TP53
- Exon Coverage:
- 2-11
- Clinical Utility:
- Somatic TP53 mutations are generally associated with poor prognosis in myeloid neoplasms, and may modulate treatment response in low-risk MDS.
- Gene:
- U2AF1
- Exon Coverage:
- 2, 6
- Clinical Utility:
- Mutations in the U2AF1 have been associated with an increased rate of leukemic transformation in MDS.
- Gene:
- CALR
- Exon Coverage:
- 9
- Clinical Utility:
- Somatic mutations in CALR have been identified in over 70%-80% of patients with JAK2/MPL-unmutated MPN, including ET and PMF, but generally not in PV, aiding in diagnostic discrimination of MPN. CALR mutations may be associated with favorable clinical characteristics and prognosis in PMF.
- Gene:
- JAK2
- Exon Coverage:
- 12, 14
- Clinical Utility:
- JAK2 mutations are incorporated into diagnostic algorithms of Ph-negative MPNs, with implications for prognosis and treatment response.
- Gene:
- MPL
- Exon Coverage:
- 10
- Clinical Utility:
- Mutations in MPL contribute to the diagnostic and prognostic classification of MPNs.
- Gene:
- ASXL1
- Exon Coverage:
- 12
- Clinical Utility:
- ASXL1 mutations are generally associated with adverse prognosis in myeloid malignancies.
- Gene:
- BCOR
- Exon Coverage:
- 2-15
- Clinical Utility:
- Mutations in the BCOR gene tend to be associated with poor prognostic features.
- Gene:
- CBL
- Exon Coverage:
- 8, 9
- Clinical Utility:
- Somatic mutations in CBL have been reported most frequently in CMML and JMML.
- Gene:
- DNMT3A
- Exon Coverage:
- 2-23
- Clinical Utility:
- Mutations in DNMT3A have been associated with poor prognosis in subsets of MDS and AML, depending on the clinical and molecular context. Patients with DNMT3A-mutated AML have an inferior survival when treated with standard dose induction therapy and should be considered for high-dose induction therapy.
- Gene:
- ETV6
- Exon Coverage:
- 1-8
- Clinical Utility:
- ETV6 mutations are associated with poor prognosis in MDS.
- Gene:
- EZH2
- Exon Coverage:
- 2-20
- Clinical Utility:
- EZH2 mutations correlate with adverse outcomes in myeloid disorders (MDS, CMML, PMF).
- Gene:
- JAK2
- Exon Coverage:
- 12, 14
- Clinical Utility:
- JAK2 mutations are incorporated into diagnostic algorithms of Ph-negative MPNs, with implications for prognosis and treatment response.
- Gene:
- KRAS
- Exon Coverage:
- 2, 3
- Clinical Utility:
- RAS mutations are highly prevalent in myeloid malignancies, and are a target for MEK inhibition in hematological cancers.
- Gene:
- NRAS
- Exon Coverage:
- 2, 3
- Clinical Utility:
- NRAS mutations in mCRC are predictive of lack of benefit to anti-EGFR therapeutic agents (cetuximab, panitumumab), and may predict response to MEK inhibitors in metastatic melanoma.
- Gene:
- PTPN11
- Exon Coverage:
- 3, 13
- Clinical Utility:
- Mutations in PTPN11 occur in several types of hematologic malignancies, most frequently in patients with JMML.
- Gene:
- RUNX1
- Exon Coverage:
- 2-9
- Clinical Utility:
- RUNX1 mutations are associated with poor prognosis in MDS and with adverse clinical characteristics in AML.
- Gene:
- SETBP1
- Exon Coverage:
- 4
- Clinical Utility:
- Somatic mutations in SETBP1 occur in a variety of myeloid malignancies, are common in aCML, and are associated with disease progression and adverse clinical characteristics.
- Gene:
- SF3B1
- Exon Coverage:
- 13-16
- Clinical Utility:
- SF3B1 gene mutations have been reported in MDS, including the vast majority of cases with the ring sideroblasts phenotype, and are associated with favorable prognosis.
- Gene:
- SRSF2
- Exon Coverage:
- 1
- Clinical Utility:
- Mutations in SRSF2 occur in a variety of myeloid neoplasms and are generally associated with poor prognostic impact.
- Gene:
- TET2
- Exon Coverage:
- 3-11
- Clinical Utility:
- TET2 is frequently deleted or mutated in myeloid malignancies, may have adverse prognostic impact in AML, and may be predictive of a response to hypomethylating agents in MDS.
- Gene:
- TP53
- Exon Coverage:
- 2-11
- Clinical Utility:
- Somatic TP53 mutations are generally associated with poor prognosis in myeloid neoplasms, and may modulate treatment response in low-risk MDS.
- Gene:
- U2AF1
- Exon Coverage:
- 2, 6
- Clinical Utility:
- Mutations in the U2AF1 have been associated with an increased rate of leukemic transformation in MDS.
- Gene:
- ZRSR2
- Exon Coverage:
- 1-11
- Clinical Utility:
- Mutations in ZRSR2 are recurrent mutations in myeloid neoplasms.
- Gene:
- ASXL1
- Exon Coverage:
- 12
- Clinical Utility:
- ASXL1 mutations are generally associated with adverse prognosis in myeloid malignancies.
- Gene:
- BCOR
- Exon Coverage:
- 2-15
- Clinical Utility:
- Mutations in the BCOR gene tend to be associated with poor prognostic features.
- Gene:
- DNMT3A
- Exon Coverage:
- 2-23
- Clinical Utility:
- Mutations in DNMT3A have been associated with poor prognosis in subsets of MDS and AML, depending on the clinical and molecular context. Patients with DNMT3A-mutated AML have an inferior survival when treated with standard dose induction therapy and should be considered for high-dose induction therapy.
- Gene:
- EZH2
- Exon Coverage:
- 2-20
- Clinical Utility:
- EZH2 mutations correlate with adverse outcomes in myeloid disorders (MDS, CMML, PMF).
- Gene:
- FLT3
- Exon Coverage:
- 13-15, 20
- Clinical Utility:
- Internal tandem duplications in FLT3 (FLT3-ITD) along with other activating mutations are associated with an adverse prognosis in AML patients presenting with a normal karyotype. FLT3 mutations are a target for therapeutic agents.
- Gene:
- IDH1
- Exon Coverage:
- 4
- Clinical Utility:
- IDH (IDH1 and IDH2) mutations are more prevalent in low grade diffuse gliomas and in secondary glioblastomas, they are associated with improved prognosis in low grade gliomas, and may predict response to therapy (IDH inhibitors, temolozomide).
- Gene:
- IDH2
- Exon Coverage:
- 4
- Clinical Utility:
- IDH (IDH1 and IDH2) mutations are more prevalent in low grade diffuse gliomas and in secondary glioblastomas, they are associated with improved prognosis in low grade gliomas, and may predict response to therapy (IDH inhibitors, temolozomide).
- Gene:
- KIT
- Exon Coverage:
- 2, 8-11, 13, 17
- Clinical Utility:
- Mutations in c-KIT are recurrent in core-binding-factor (CBF) AML and systemic mastocytosis, and impact diagnosis, prognosis, and therapeutic guidance and prediction of response to TKIs.
- Gene:
- KRAS
- Exon Coverage:
- 2, 3
- Clinical Utility:
- RAS mutations are highly prevalent in myeloid malignancies, and are a target for MEK inhibition in hematological cancers.
- Gene:
- NPM1
- Exon Coverage:
- 11
- Clinical Utility:
- NPM1 mutational status is utilized in prognostic stratification in AML.
- Gene:
- NRAS
- Exon Coverage:
- 2, 3
- Clinical Utility:
- NRAS mutations in mCRC are predictive of lack of benefit to anti-EGFR therapeutic agents (cetuximab, panitumumab), and may predict response to MEK inhibitors in metastatic melanoma.
- Gene:
- PHF6
- Exon Coverage:
- 2-10
- Clinical Utility:
- PHF6 mutations have been associated with reduced overall survival in AML.
- Gene:
- PTPN11
- Exon Coverage:
- 3, 13
- Clinical Utility:
- Mutations in PTPN11 occur in several types of hematologic malignancies, most frequently in patients with JMML.
- Gene:
- RUNX1
- Exon Coverage:
- 2-9
- Clinical Utility:
- RUNX1 mutations are associated with poor prognosis in MDS and with adverse clinical characteristics in AML.
- Gene:
- TET2
- Exon Coverage:
- 3-11
- Clinical Utility:
- TET2 is frequently deleted or mutated in myeloid malignancies, may have adverse prognostic impact in AML, and may be predictive of a response to hypomethylating agents in MDS.
- Gene:
- TP53
- Exon Coverage:
- 2-11
- Clinical Utility:
- Somatic TP53 mutations are generally associated with poor prognosis in myeloid neoplasms, and may modulate treatment response in low-risk MDS.
- Gene:
- WT1
- Exon Coverage:
- 7, 9
- Clinical Utility:
- Mutations in WT1 have been associated with adverse prognosis in AML.
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