Solid Tumor Expanded Panel

Solid Tumor Expanded Panel

This NGS tumor profiling test is used to identify genomic variants and biomarkers in solid tumors.

See also 1 related tests 4 related guides Test Guide List

Solid Tumor Expanded Panel

Test Summary

 

Solid Tumor Expanded Panel

Test code: 93233

 

Clinical use

  • Identify genomic variants and biomarkers in solid tumors that may aid in diagnosis, prognosis, and treatment selection

Clinical background

Cancer is a considerable public health burden in the United States. In 2024, an estimated 2 million people will be newly diagnosed with and over 600,000 will die from cancer.1 However, cancer mortality rates continue to improve, owing in part to advances in precision medicine.1 A precision medicine approach to cancer may include using knowledge of “actionable” genomic variants present within a patient’s tumor to personalize care.

Actionable variants are those that can influence clinical decisions regarding diagnosis, classification, prognosis, and treatment selection.2 Many of these variants serve as predictive biomarkers for response to targeted therapies and immunotherapies in a variety of solid tumor types, including lung cancer, prostate cancer, colorectal cancer, ovarian cancer, cholangiocarcinoma, breast cancer, gastrointestinal stromal tumors, sarcoma, thyroid cancer, and cancer of unknown primary (CUP).3 The list of actionable variants is dynamic and will expand as precision medicine advances.

Actionable variants can be detected with single-gene tests, small-gene panels, or tumor profiling tests. Tumor profiling tests use next-generation sequencing (NGS), which allows for hundreds of genes to be sequenced simultaneously with sensitivity for variants similar to or greater than that of Sanger sequencing and other methods.2,4,5 Furthermore, NGS tumor profiling tests can be designed to sequence full coding regions of targeted genes, allowing for detection of variants outside of hotspots.

Information from a wide range of cancer-associated genes, including investigational biomarkers and biomarkers that fulfill inclusion criteria for clinical trials, is provided by NGS tumor profiling. Test results may help in management decisions for patients with advanced or rare cancers who have limited treatment options, patients with CUP, or patients without adequate tumor specimen for serial testing.6,7 In comprehensive genomic studies of patients with metastatic cancers, at least 1 actionable variant was detected in 37% to 62% (depending on the test used, the way actionability was defined, and the distribution of tumor types among study participants).8,9

Large NGS tumor profiling tests can also concurrently evaluate tumor mutational burden (TMB) and microsatellite instability (MSI).6 These are gene-agnostic measures of hypermutation and defective DNA repair mechanisms within tumor cells. High TMB (TMB-H) and MSI (MSI-H) are predictive biomarkers of response to therapies with immune checkpoint inhibitors because the increased frequency of mutations in TMB-H and MSI-H tumors can help generate a stronger antitumor response.10 TMB-H is most common in melanoma (53%) and lung cancers (up to 41%).11 MSI-H is most common in tumor types associated with Lynch syndrome, including endometrial (20%), colorectal (17%), and gastric-esophageal cancers (13%).10

Many guidelines include testing for TMB, MSI, or variants in specific genes, but recommended testing methods vary.3,6,12 NGS tumor profiling is increasingly presented as a useful option for evaluating many genomic biomarkers simultaneously (including TMB, which cannot be evaluated with smaller-scale tests),6 as the cost and availability of NGS continue to improve over time.3

The Solid Tumor Expanded Panel is an NGS tumor profiling test that includes analysis of TMB, MSI, and over 500 cancer genes with actionable variants in solid tumors. Full coding regions of 522 genes and the promoter region of TERT are sequenced from DNA to detect single-nucleotide variants (SNVs), insertions/deletions (indels), and copy-number variants (CNVs). Of these, 55 common acceptor genes are also sequenced from RNA to detect fusions and splice variants. Please see the Appendix for the full list of genes included in this assay.

Individuals suitable for testing

  • Individuals with metastatic or advanced solid tumors6
  • Individuals with rare tumor types6
  • Individuals with CUP7
  • Individuals with inadequate specimen for serial guideline-recommended testing6

Method

  • NGS of 522 genes and the TERT promoter from DNA and 55 genes from RNA:
    • Libraries are prepared from tumor DNA and RNA separately and enriched by hybridization capture.
    • Libraries are sequenced on an Illumina NovaSeq 6000 with ≥100X coverage at ≥95% of all regions of interest.
    • Reference genome (GRCh37.p13) alignment, variant calling, and quality control are performed using a bioinformatics pipeline developed by Quest.
    • Classification of variants is performed in collaboration with third-party annotation scientists according to the Association for Molecular Pathology reporting guidelines (Table).2
  • Analytical sensitivity:
    • SNVs and indels: ≥5% variant allele frequency, size ≤35 bp
    • CNVs: amplification of ≥1.7-fold and loss of 0.6-fold
    • Fusions and splice variants: 20% tumor burden

Interpretive information

Variants detected and their clinical significance in diagnosis, prognosis, and predicting response to therapy are provided in the results. The variants are classified into tiers based on the strength of the current evidence for their clinical significance (Table). This test only detects variants within targeted regions of the selected genes; promoter and intronic variants are not provided (except for the TERT promoter, fusions, and splice site variants).

Table. Variant Classification Tiers2

Tier

Strength of significance

Type of evidence

1

Strong clinical significance
  • Actionability supported by large studies with expert consensus
  • Included in professional guidelines to guide clinical decision-making for the given tumor type

2

Potential clinical significance
  • Actionability supported by multiple small or preclinical studies or case reports, with or without expert consensus
  • Included in professional guidelines to guide therapy selection for a different tumor type
  • Fulfills criteria for clinical trial inclusion

3

Uncertain clinical significance
  • No known actionability or significance in current literature
  • Not found in the general population

4a

Benign or likely benign
  • No known actionability or significance in current literature
  • Found in the general population

a Tier 4 variants are not reported.

 

Patients with TMB-H or MSI-H results may be candidates for therapies with immune checkpoint inhibitors. Patients with low TMB and stable MSI results may be less likely to respond to these therapies.

Specimen quality and other individual patient variables can affect the performance of this test. Results should be considered together with clinical findings, patient history, and other laboratory data. Additional assistance in interpretation of results is available from our Oncology Client Services team (1.883.773.1441).

References

  1. Siegel RL, Giaquinto AN, Jemal A. Cancer statistics, 2024. CA: A Cancer J Clin. 2024;74(1):12-49. doi:10.3322/caac.21820
  2. Li MM, Datto M, Duncavage EJ, et al. Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn. 2017;19(1):4-23. doi:10.1016/j.jmoldx.2016.10.002
  3. Mosele MF, Westphalen CB, Stenzinger A, et al. Recommendations for the use of next-generation sequencing (NGS) for patients with advanced cancer in 2024: a report from the ESMO Precision Medicine Working Group. Ann Oncol. 2024;35(7):588-606. doi:10.1016/j.annonc.2024.04.005
  4. Frampton GM, Fichtenholtz A, Otto GA, et al. Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat Biotechnol. 2013;31(11):1023-1031. doi:10.1038/nbt.2696
  5. Beck TF, Mullikin JC, NISC Comparative Sequencing Program, et al. Systematic evaluation of Sanger validation of next-generation sequencing variants. Clin Chem. 2016;62(4):647-654. doi:10.1373/clinchem.2015.249623
  6. Chakravarty D, Johnson A, Sklar J, et al. Somatic genomic testing in patients with metastatic or advanced cancer: ASCO provisional clinical opinion. J Clin Oncol. 2022;40(11):1231-1258. doi:10.1200/jco.21.02767
  7. Krämer A, Bochtler T, Pauli C, et al. Cancer of unknown primary: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up. Ann Oncol. 2023;34(3):228-246. doi:10.1016/j.annonc.2022.11.013
  8. Zehir A, Benayed R, Shah RH, et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nat Med. 2017;23(6):703-713. doi:10.1038/nm.4333
  9. Priestley P, Baber J, Lolkema MP, et al. Pan-cancer whole-genome analyses of metastatic solid tumours. Nature. 2019;575(7781):210-216. doi:10.1038/s41586-019-1689-y
  10. Luchini C, Bibeau F, Ligtenberg MJL, et al. ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach. Ann Oncol. 2019;30(8):1232-1243. doi:10.1093/annonc/mdz116
  11. Valero C, Lee M, Hoen D, et al. Response rates to anti–PD-1 immunotherapy in microsatellite-stable solid tumors with 10 or more mutations per megabase. JAMA Oncol. 2021;7(5):739-743. doi:10.1001/jamaoncol.2020.7684
  12. Vikas P, Messersmith H, Compton C, et al. Mismatch repair and microsatellite instability testing for immune checkpoint inhibitor therapy: ASCO endorsement of College of American Pathologists guideline. J Clin Oncol. 2023;41(10):1943-1948. doi:10.1200/jco.22.02462

Appendix

Test code

Test name

93233

Solid Tumor Expanded Panela,b

Includes 500+ genes (including the TERT promoter) for assessment of all DNA and RNA variant types: ABL1, ABL2, ACVR1, ACVR1B, AKT1, AKT2, AKT3, ALK, ALOX12B, ANKRD11, ANKRD26, APC, AR, ARAF, ARFRP1, ARID1A, ARID1B, ARID2, ARID5B, ASXL1, ASXL2, ATM, ATR, ATRX, AURKA, AURKB, AXIN1, AXIN2, AXL, B2M, BAP1, BARD1, BBC3, BCL10, BCL2, BCL2L1, BCL2L11, BCL2L2, BCL6, BCOR, BCORL1, BCR, BIRC3, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BTG1, BTK, C11orf30, CALR, CARD11, CASP8, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CD274, CD276, CD74, CD79A, CD79B, CDC73, CDH1, CDK12, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CENPA, CHD2, CHD4, CHEK1, CHEK2, CIC, CREBBP, CRKL, CRLF2, CSF1R, CSF3R, CSNK1A1, CTCF, CTLA4, CTNNA1, CTNNB1, CUL3, CUX1, CXCR4, CYLD, DAXX, DCUN1D1, DDR2, DDX41, DHX15, DICER1, DIS3, DNAJB1, DNMT1, DNMT3A, DNMT3B, DOT1L, E2F3, EED, EGFL7, EGFR, EIF1AX, EIF4A2, EIF4E, EML4, EP300, EPCAM, EPHA3, EPHA5, EPHA7, EPHB1, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERG, ERRFI1, ESR1, ETS1, ETV1, ETV4, ETV5, ETV6, EWSR1, EZH2, FAM123B, FAM175A, FAM46C, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS, FAT1, FBXW7, FGF1, FGF10, FGF14, FGF19, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FLI1, FLT1, FLT3, FLT4, FOXA1, FOXL2, FOXO1, FOXP1, FRS2, FUBP1, FYN, GABRA6, GATA1, GATA2, GATA3, GATA4, GATA6, GEN1, GID4, GLI1, GNA11, GNA13, GNAQ, GNAS, GPR124, GPS2, GREM1, GRIN2A, GRM3, GSK3B, H3F3A, H3F3B, H3F3C, HGF, HIST1H1C, HIST1H2BD, HIST1H3A, HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H3F, HIST1H3G, HIST1H3H, HIST1H3I, HIST1H3J, HIST2H3A, HIST2H3C, HIST2H3D, HIST3H3, HLA-A, HLA-B, HLA-C, HNF1A, HNRNPK, HOXB13, HRAS, HSD3B1, HSP90AA1, ICOSLG, ID3, IDH1, IDH2, IFNGR1, IGF1, IGF1R, IGF2, IKBKE, IKZF1, IL10, IL7R, INHA, INHBA, INPP4A, INPP4B, INSR, IRF2, IRF4, IRS1, IRS2, JAK1, JAK2, JAK3, JUN, KAT6A, KDM5A, KDM5C, KDM6A, KDR, KEAP1, KEL, KIF5B, KIT, KLF4, KLHL6, KMT2B, KMT2C, KMT2D, KRAS, LAMP1, LATS1, LATS2, LMO1, LRP1B, LYN, LZTR1, MAGI2, MALT1, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K13, MAP3K14, MAP3K4, MAPK1, MAPK3, MAX, MCL1, MDC1, MDM2, MDM4, MED12, MEF2B, MEN1, MET, MGA, MITF, MLH1, MLL, MLLT3, MPL, MRE11A, MSH2, MSH3, MSH6, MST1, MST1R, MTOR, MUTYH, MYB, MYC, MYCL1, MYCN, MYD88, MYOD1, NAB2, NBN, NCOA3, NCOR1, NEGR1, NF1, NF2, NFE2L2, NFKBIA, NKX2-1, NKX3-1, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NRAS, NRG1, NSD1, NTRK1, NTRK2, NTRK3, NUP93, NUTM1, PAK1, PAK3, PAK7, PALB2, PARK2, PARP1, PAX3, PAX5, PAX7, PAX8, PBRM1, PDCD1, PDCD1LG2, PDGFRA, PDGFRB, PDK1, PDPK1, PGR, PHF6, PHOX2B, PIK3C2B, PIK3C2G, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIM1, PLCG2, PLK2, PMAIP1, PMS1, PMS2, PNRC1, POLD1, POLE, PPARG, PPM1D, PPP2R1A, PPP2R2A, PPP6C, PRDM1, PREX2, PRKAR1A, PRKCI, PRKDC, PRSS8, PTCH1, PTEN, PTPN11, PTPRD, PTPRS, PTPRT, QKI, RAB35, RAC1, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RANBP2, RARA, RASA1, RB1, RBM10, RECQL4, REL, RET, RFWD2, RHEB, RHOA, RICTOR, RIT1, RNF43, ROS1, RPS6KA4, RPS6KB1, RPS6KB2, RPTOR, RUNX1, RUNX1T1, RYBP, SDHA, SDHAF2, SDHB, SDHC, SDHD, SETBP1, SETD2, SF3B1, SH2B3, SH2D1A, SHQ1, SLIT2, SLX4, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCB1, SMARCD1, SMC1A, SMC3, SMO, SNCAIP, SOCS1, SOX10, SOX17, SOX2, SOX9, SPEN, SPOP, SPTA1, SRC, SRSF2, STAG1, STAG2, STAT3, STAT4, STAT5A, STAT5B, STK11, STK40, SUFU, SUZ12, SYK, TAF1, TBX3, TCEB1, TCF3, TCF7L2, TERC, TERT, TET1, TET2, TFE3, TFRC, TGFBR1, TGFBR2, TMEM127, TMPRSS2, TNFAIP3, TNFRSF14, TOP1, TOP2A, TP53, TP63, TRAF2, TRAF7, TSC1, TSC2, TSHR, U2AF1, VEGFA, VHL, VTCN1, WISP3, WT1, XIAP, XPO1, XRCC2, YAP1, YES1, ZBTB2, ZBTB7A, ZFHX3, ZNF217, ZNF703, and ZRSR2, with testing of 55 genes for translocations: ABL1, AKT3, ALK, AR, AXL, BCL2, BRAF, BRCA1, BRCA2, CDK4, CSF1R, EGFR, EML4, ERBB2, ERG, ESR1, ETS1, ETV1, ETV4, ETV5, EWSR1, FGFR1, FGFR2, FGFR3, FGFR4, FLI1, FLT1, FLT3, JAK2, KDR, KIF5B, KIT, MET, MLL, MLLT3, MSH2, MYC, NOTCH1, NOTCH2, NOTCH3, NRG1, NTRK1, NTRK2, NTRK3, PAX3, PAX7, PDGFRA, PDGFRB, PIK3CA, PPARG, RAF1, RET, ROS1, RPS6KB1, and TMPRSS2. Includes TMB and MSI analysis.
MSI, microsatellite instability; TMB, tumor mutational burden.
a This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the US Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
b Please note that Quest offers a variety of single-gene and gene-panel testing. For the genetic panel noted in this document, there may be single-gene tests or smaller panels that may be applicable for your patient. Refer to the Quest Diagnostics Test Directory for further information: TestDirectory.QuestDiagnostics.com/Test/Home.

 

Content reviewed 08/2024

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This NGS tumor profiling test is used to identify genomic variants and biomarkers in solid tumors.

Test Guide List

Solid Tumor Expanded Panel

Test Summary

 

Solid Tumor Expanded Panel

Test code: 93233

 

Clinical use

  • Identify genomic variants and biomarkers in solid tumors that may aid in diagnosis, prognosis, and treatment selection

Clinical background

Cancer is a considerable public health burden in the United States. In 2024, an estimated 2 million people will be newly diagnosed with and over 600,000 will die from cancer.1 However, cancer mortality rates continue to improve, owing in part to advances in precision medicine.1 A precision medicine approach to cancer may include using knowledge of “actionable” genomic variants present within a patient’s tumor to personalize care.

Actionable variants are those that can influence clinical decisions regarding diagnosis, classification, prognosis, and treatment selection.2 Many of these variants serve as predictive biomarkers for response to targeted therapies and immunotherapies in a variety of solid tumor types, including lung cancer, prostate cancer, colorectal cancer, ovarian cancer, cholangiocarcinoma, breast cancer, gastrointestinal stromal tumors, sarcoma, thyroid cancer, and cancer of unknown primary (CUP).3 The list of actionable variants is dynamic and will expand as precision medicine advances.

Actionable variants can be detected with single-gene tests, small-gene panels, or tumor profiling tests. Tumor profiling tests use next-generation sequencing (NGS), which allows for hundreds of genes to be sequenced simultaneously with sensitivity for variants similar to or greater than that of Sanger sequencing and other methods.2,4,5 Furthermore, NGS tumor profiling tests can be designed to sequence full coding regions of targeted genes, allowing for detection of variants outside of hotspots.

Information from a wide range of cancer-associated genes, including investigational biomarkers and biomarkers that fulfill inclusion criteria for clinical trials, is provided by NGS tumor profiling. Test results may help in management decisions for patients with advanced or rare cancers who have limited treatment options, patients with CUP, or patients without adequate tumor specimen for serial testing.6,7 In comprehensive genomic studies of patients with metastatic cancers, at least 1 actionable variant was detected in 37% to 62% (depending on the test used, the way actionability was defined, and the distribution of tumor types among study participants).8,9

Large NGS tumor profiling tests can also concurrently evaluate tumor mutational burden (TMB) and microsatellite instability (MSI).6 These are gene-agnostic measures of hypermutation and defective DNA repair mechanisms within tumor cells. High TMB (TMB-H) and MSI (MSI-H) are predictive biomarkers of response to therapies with immune checkpoint inhibitors because the increased frequency of mutations in TMB-H and MSI-H tumors can help generate a stronger antitumor response.10 TMB-H is most common in melanoma (53%) and lung cancers (up to 41%).11 MSI-H is most common in tumor types associated with Lynch syndrome, including endometrial (20%), colorectal (17%), and gastric-esophageal cancers (13%).10

Many guidelines include testing for TMB, MSI, or variants in specific genes, but recommended testing methods vary.3,6,12 NGS tumor profiling is increasingly presented as a useful option for evaluating many genomic biomarkers simultaneously (including TMB, which cannot be evaluated with smaller-scale tests),6 as the cost and availability of NGS continue to improve over time.3

The Solid Tumor Expanded Panel is an NGS tumor profiling test that includes analysis of TMB, MSI, and over 500 cancer genes with actionable variants in solid tumors. Full coding regions of 522 genes and the promoter region of TERT are sequenced from DNA to detect single-nucleotide variants (SNVs), insertions/deletions (indels), and copy-number variants (CNVs). Of these, 55 common acceptor genes are also sequenced from RNA to detect fusions and splice variants. Please see the Appendix for the full list of genes included in this assay.

Individuals suitable for testing

  • Individuals with metastatic or advanced solid tumors6
  • Individuals with rare tumor types6
  • Individuals with CUP7
  • Individuals with inadequate specimen for serial guideline-recommended testing6

Method

  • NGS of 522 genes and the TERT promoter from DNA and 55 genes from RNA:
    • Libraries are prepared from tumor DNA and RNA separately and enriched by hybridization capture.
    • Libraries are sequenced on an Illumina NovaSeq 6000 with ≥100X coverage at ≥95% of all regions of interest.
    • Reference genome (GRCh37.p13) alignment, variant calling, and quality control are performed using a bioinformatics pipeline developed by Quest.
    • Classification of variants is performed in collaboration with third-party annotation scientists according to the Association for Molecular Pathology reporting guidelines (Table).2
  • Analytical sensitivity:
    • SNVs and indels: ≥5% variant allele frequency, size ≤35 bp
    • CNVs: amplification of ≥1.7-fold and loss of 0.6-fold
    • Fusions and splice variants: 20% tumor burden

Interpretive information

Variants detected and their clinical significance in diagnosis, prognosis, and predicting response to therapy are provided in the results. The variants are classified into tiers based on the strength of the current evidence for their clinical significance (Table). This test only detects variants within targeted regions of the selected genes; promoter and intronic variants are not provided (except for the TERT promoter, fusions, and splice site variants).

Table. Variant Classification Tiers2

Tier

Strength of significance

Type of evidence

1

Strong clinical significance
  • Actionability supported by large studies with expert consensus
  • Included in professional guidelines to guide clinical decision-making for the given tumor type

2

Potential clinical significance
  • Actionability supported by multiple small or preclinical studies or case reports, with or without expert consensus
  • Included in professional guidelines to guide therapy selection for a different tumor type
  • Fulfills criteria for clinical trial inclusion

3

Uncertain clinical significance
  • No known actionability or significance in current literature
  • Not found in the general population

4a

Benign or likely benign
  • No known actionability or significance in current literature
  • Found in the general population

a Tier 4 variants are not reported.

 

Patients with TMB-H or MSI-H results may be candidates for therapies with immune checkpoint inhibitors. Patients with low TMB and stable MSI results may be less likely to respond to these therapies.

Specimen quality and other individual patient variables can affect the performance of this test. Results should be considered together with clinical findings, patient history, and other laboratory data. Additional assistance in interpretation of results is available from our Oncology Client Services team (1.883.773.1441).

References

  1. Siegel RL, Giaquinto AN, Jemal A. Cancer statistics, 2024. CA: A Cancer J Clin. 2024;74(1):12-49. doi:10.3322/caac.21820
  2. Li MM, Datto M, Duncavage EJ, et al. Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn. 2017;19(1):4-23. doi:10.1016/j.jmoldx.2016.10.002
  3. Mosele MF, Westphalen CB, Stenzinger A, et al. Recommendations for the use of next-generation sequencing (NGS) for patients with advanced cancer in 2024: a report from the ESMO Precision Medicine Working Group. Ann Oncol. 2024;35(7):588-606. doi:10.1016/j.annonc.2024.04.005
  4. Frampton GM, Fichtenholtz A, Otto GA, et al. Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat Biotechnol. 2013;31(11):1023-1031. doi:10.1038/nbt.2696
  5. Beck TF, Mullikin JC, NISC Comparative Sequencing Program, et al. Systematic evaluation of Sanger validation of next-generation sequencing variants. Clin Chem. 2016;62(4):647-654. doi:10.1373/clinchem.2015.249623
  6. Chakravarty D, Johnson A, Sklar J, et al. Somatic genomic testing in patients with metastatic or advanced cancer: ASCO provisional clinical opinion. J Clin Oncol. 2022;40(11):1231-1258. doi:10.1200/jco.21.02767
  7. Krämer A, Bochtler T, Pauli C, et al. Cancer of unknown primary: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up. Ann Oncol. 2023;34(3):228-246. doi:10.1016/j.annonc.2022.11.013
  8. Zehir A, Benayed R, Shah RH, et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nat Med. 2017;23(6):703-713. doi:10.1038/nm.4333
  9. Priestley P, Baber J, Lolkema MP, et al. Pan-cancer whole-genome analyses of metastatic solid tumours. Nature. 2019;575(7781):210-216. doi:10.1038/s41586-019-1689-y
  10. Luchini C, Bibeau F, Ligtenberg MJL, et al. ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach. Ann Oncol. 2019;30(8):1232-1243. doi:10.1093/annonc/mdz116
  11. Valero C, Lee M, Hoen D, et al. Response rates to anti–PD-1 immunotherapy in microsatellite-stable solid tumors with 10 or more mutations per megabase. JAMA Oncol. 2021;7(5):739-743. doi:10.1001/jamaoncol.2020.7684
  12. Vikas P, Messersmith H, Compton C, et al. Mismatch repair and microsatellite instability testing for immune checkpoint inhibitor therapy: ASCO endorsement of College of American Pathologists guideline. J Clin Oncol. 2023;41(10):1943-1948. doi:10.1200/jco.22.02462

Appendix

Test code

Test name

93233

Solid Tumor Expanded Panela,b

Includes 500+ genes (including the TERT promoter) for assessment of all DNA and RNA variant types: ABL1, ABL2, ACVR1, ACVR1B, AKT1, AKT2, AKT3, ALK, ALOX12B, ANKRD11, ANKRD26, APC, AR, ARAF, ARFRP1, ARID1A, ARID1B, ARID2, ARID5B, ASXL1, ASXL2, ATM, ATR, ATRX, AURKA, AURKB, AXIN1, AXIN2, AXL, B2M, BAP1, BARD1, BBC3, BCL10, BCL2, BCL2L1, BCL2L11, BCL2L2, BCL6, BCOR, BCORL1, BCR, BIRC3, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BTG1, BTK, C11orf30, CALR, CARD11, CASP8, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CD274, CD276, CD74, CD79A, CD79B, CDC73, CDH1, CDK12, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CENPA, CHD2, CHD4, CHEK1, CHEK2, CIC, CREBBP, CRKL, CRLF2, CSF1R, CSF3R, CSNK1A1, CTCF, CTLA4, CTNNA1, CTNNB1, CUL3, CUX1, CXCR4, CYLD, DAXX, DCUN1D1, DDR2, DDX41, DHX15, DICER1, DIS3, DNAJB1, DNMT1, DNMT3A, DNMT3B, DOT1L, E2F3, EED, EGFL7, EGFR, EIF1AX, EIF4A2, EIF4E, EML4, EP300, EPCAM, EPHA3, EPHA5, EPHA7, EPHB1, ERBB2, ERBB3, ERBB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERG, ERRFI1, ESR1, ETS1, ETV1, ETV4, ETV5, ETV6, EWSR1, EZH2, FAM123B, FAM175A, FAM46C, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAS, FAT1, FBXW7, FGF1, FGF10, FGF14, FGF19, FGF2, FGF23, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FLI1, FLT1, FLT3, FLT4, FOXA1, FOXL2, FOXO1, FOXP1, FRS2, FUBP1, FYN, GABRA6, GATA1, GATA2, GATA3, GATA4, GATA6, GEN1, GID4, GLI1, GNA11, GNA13, GNAQ, GNAS, GPR124, GPS2, GREM1, GRIN2A, GRM3, GSK3B, H3F3A, H3F3B, H3F3C, HGF, HIST1H1C, HIST1H2BD, HIST1H3A, HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H3F, HIST1H3G, HIST1H3H, HIST1H3I, HIST1H3J, HIST2H3A, HIST2H3C, HIST2H3D, HIST3H3, HLA-A, HLA-B, HLA-C, HNF1A, HNRNPK, HOXB13, HRAS, HSD3B1, HSP90AA1, ICOSLG, ID3, IDH1, IDH2, IFNGR1, IGF1, IGF1R, IGF2, IKBKE, IKZF1, IL10, IL7R, INHA, INHBA, INPP4A, INPP4B, INSR, IRF2, IRF4, IRS1, IRS2, JAK1, JAK2, JAK3, JUN, KAT6A, KDM5A, KDM5C, KDM6A, KDR, KEAP1, KEL, KIF5B, KIT, KLF4, KLHL6, KMT2B, KMT2C, KMT2D, KRAS, LAMP1, LATS1, LATS2, LMO1, LRP1B, LYN, LZTR1, MAGI2, MALT1, MAP2K1, MAP2K2, MAP2K4, MAP3K1, MAP3K13, MAP3K14, MAP3K4, MAPK1, MAPK3, MAX, MCL1, MDC1, MDM2, MDM4, MED12, MEF2B, MEN1, MET, MGA, MITF, MLH1, MLL, MLLT3, MPL, MRE11A, MSH2, MSH3, MSH6, MST1, MST1R, MTOR, MUTYH, MYB, MYC, MYCL1, MYCN, MYD88, MYOD1, NAB2, NBN, NCOA3, NCOR1, NEGR1, NF1, NF2, NFE2L2, NFKBIA, NKX2-1, NKX3-1, NOTCH1, NOTCH2, NOTCH3, NOTCH4, NPM1, NRAS, NRG1, NSD1, NTRK1, NTRK2, NTRK3, NUP93, NUTM1, PAK1, PAK3, PAK7, PALB2, PARK2, PARP1, PAX3, PAX5, PAX7, PAX8, PBRM1, PDCD1, PDCD1LG2, PDGFRA, PDGFRB, PDK1, PDPK1, PGR, PHF6, PHOX2B, PIK3C2B, PIK3C2G, PIK3C3, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PIK3R2, PIK3R3, PIM1, PLCG2, PLK2, PMAIP1, PMS1, PMS2, PNRC1, POLD1, POLE, PPARG, PPM1D, PPP2R1A, PPP2R2A, PPP6C, PRDM1, PREX2, PRKAR1A, PRKCI, PRKDC, PRSS8, PTCH1, PTEN, PTPN11, PTPRD, PTPRS, PTPRT, QKI, RAB35, RAC1, RAD21, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD52, RAD54L, RAF1, RANBP2, RARA, RASA1, RB1, RBM10, RECQL4, REL, RET, RFWD2, RHEB, RHOA, RICTOR, RIT1, RNF43, ROS1, RPS6KA4, RPS6KB1, RPS6KB2, RPTOR, RUNX1, RUNX1T1, RYBP, SDHA, SDHAF2, SDHB, SDHC, SDHD, SETBP1, SETD2, SF3B1, SH2B3, SH2D1A, SHQ1, SLIT2, SLX4, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCB1, SMARCD1, SMC1A, SMC3, SMO, SNCAIP, SOCS1, SOX10, SOX17, SOX2, SOX9, SPEN, SPOP, SPTA1, SRC, SRSF2, STAG1, STAG2, STAT3, STAT4, STAT5A, STAT5B, STK11, STK40, SUFU, SUZ12, SYK, TAF1, TBX3, TCEB1, TCF3, TCF7L2, TERC, TERT, TET1, TET2, TFE3, TFRC, TGFBR1, TGFBR2, TMEM127, TMPRSS2, TNFAIP3, TNFRSF14, TOP1, TOP2A, TP53, TP63, TRAF2, TRAF7, TSC1, TSC2, TSHR, U2AF1, VEGFA, VHL, VTCN1, WISP3, WT1, XIAP, XPO1, XRCC2, YAP1, YES1, ZBTB2, ZBTB7A, ZFHX3, ZNF217, ZNF703, and ZRSR2, with testing of 55 genes for translocations: ABL1, AKT3, ALK, AR, AXL, BCL2, BRAF, BRCA1, BRCA2, CDK4, CSF1R, EGFR, EML4, ERBB2, ERG, ESR1, ETS1, ETV1, ETV4, ETV5, EWSR1, FGFR1, FGFR2, FGFR3, FGFR4, FLI1, FLT1, FLT3, JAK2, KDR, KIF5B, KIT, MET, MLL, MLLT3, MSH2, MYC, NOTCH1, NOTCH2, NOTCH3, NRG1, NTRK1, NTRK2, NTRK3, PAX3, PAX7, PDGFRA, PDGFRB, PIK3CA, PPARG, RAF1, RET, ROS1, RPS6KB1, and TMPRSS2. Includes TMB and MSI analysis.
MSI, microsatellite instability; TMB, tumor mutational burden.
a This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the US Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
b Please note that Quest offers a variety of single-gene and gene-panel testing. For the genetic panel noted in this document, there may be single-gene tests or smaller panels that may be applicable for your patient. Refer to the Quest Diagnostics Test Directory for further information: TestDirectory.QuestDiagnostics.com/Test/Home.

 

Content reviewed 08/2024

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Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

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