NGS & Personalized Medicine

OVERVIEW & PANELS

GenPath’s scientific team has custom-designed OnkoSight, a proprietary product line of next-generation sequencing assays for hematologic malignancies and solid tumors that focuses on only the actionable mutations in common cancers. This targeted approach helps personalize patient treatment and management while greatly reducing the number of unclear variants larger panels often result out.

Genes included on OnkoSight panels are those with clear therapeutic, diagnostic, or prognostic value and those for which there are late-stage clinical trials available. National guidelines recommended genes are included on each tumor-specific panel.

TUMOR-SPECIFIC PANELS

Click on a gene below to learn more

OnkoSight 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      
OnkoSight 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:
IDH1/IDH2 mutations impact prognosis in some myeloid neoplasms, and may predict response to IDH inhibitors.
Gene:
IDH2
Exon Coverage:
4
Clinical Utility:
IDH1/IDH2 mutations impact prognosis in some myeloid neoplasms, and may predict response to IDH inhibitors.
Gene:
NRAS
Exon Coverage:
2, 3
Clinical Utility:
NRAS mutations have been associated with adverse clinical features in MDS. RAS pathway mutations are a target for MEK inhibition in hematological cancers.
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:
5, 7
Clinical Utility:
Somatic mutations in PTEN have been reported in hematological malignancies, including T-ALL and, infrequently, AML.
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.
OnkoSight Lung Cancer Panel (18 genes)
AKT1 ALK BRAF DDR2 EGFR EPHA2 ERBB2 FGFR1 FGFR2
FGFR3 KRAS MAP2K1 MET NRAS PIK3CA RET ROS1 TP53
OnkoSight Colorectal Cancer Panel (7 genes)
AKT1 BRAF EGFR KRAS MAP2K1 NRAS PIK3CA   
OnkoSight 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.
OnkoSight 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:
IDH1/IDH2 mutations impact prognosis in some myeloid neoplasms, and may predict response to IDH inhibitors.
Gene:
IDH2
Exon Coverage:
4
Clinical Utility:
IDH1/IDH2 mutations impact prognosis in some myeloid neoplasms, and may predict response to IDH inhibitors.
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 have been associated with adverse clinical features in MDS. RAS pathway mutations are a target for MEK inhibition in hematological cancers.
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.
OnkoSight MPN Panel (17 genes)
ABL1 ASXL1 CALR CBL CSF3R DNMT3A EZH2 IDH1 IDH2
JAK2 KIT MPL SETBP1 SF3B1 SRSF2 TP53 U2AF1  
OnkoSight MPN Diagnostic Panel (3 genes)
CALR JAK2 MPL       
OnkoSight MDS Panel (18 genes)
ASXL1 BCOR CBL DNMT3A ETV6 EZH2 JAK2 KRAS NRAS
PTPN11 RUNX1 SETBP1 SF3B1 SRSF2 TET2 TP53 U2AF1 ZRSR2
OnkoSight 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:
IDH1/IDH2 mutations impact prognosis in some myeloid neoplasms, and may predict response to IDH inhibitors.
Gene:
IDH2
Exon Coverage:
4
Clinical Utility:
IDH1/IDH2 mutations impact prognosis in some myeloid neoplasms, and may predict response to IDH inhibitors.
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 have been associated with adverse clinical features in MDS. RAS pathway mutations are a target for MEK inhibition in hematological cancers.
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:
IDH1/IDH2 mutations impact prognosis in some myeloid neoplasms, and may predict response to IDH inhibitors.
Gene:
IDH2
Exon Coverage:
4
Clinical Utility:
IDH1/IDH2 mutations impact prognosis in some myeloid neoplasms, and may predict response to IDH inhibitors.
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 have been associated with adverse clinical features in MDS. RAS pathway mutations are a target for MEK inhibition in hematological cancers.
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.

For further information on FDA-approved drugs with pharmacogenomic information in their labeling, please visit: Table of Pharmacogenomic Biomarkers in Drug Labeling