Solid Tumor Genomic Profiling Panels

Solid Tumor Genomic Profiling Panels

These NGS tumor profiling tests are used to identify genomic variants and biomarkers in solid tumors.

See also 3 related tests 4 related guides Test Guide List

Solid Tumor Genomic Profiling Panels

Test Summary

 

Solid Tumor Genomic Profiling Panels

Test codes

Solid TumorSEQ™: 14309
LiquidSEQ™: 14308
LiquidSEQ™ With Reflex to Solid TumorSEQ™: 14343

 

Clinical use

  • Identify genomic variants and biomarkers in solid tumors that may aid clinical decision-making

Clinical background

Advances in precision medicine have helped reduce cancer mortality rates through personalized therapy approaches.1 Identification of “actionable” genomic variants present within a patient’s tumor can influence clinical decisions regarding diagnosis, prognosis, and treatment selection for that patient.2 Many of these variants serve as predictive biomarkers for response to targeted therapies and immunotherapies in a variety of solid tumor types.3 The list of actionable variants is dynamic and will expand as precision medicine advances.

Solid tumor profiling by next-generation sequencing

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.2 NGS tumor profiling tests can be designed to sequence full coding regions of targeted genes, allowing for detection of variants outside of hotspots.

NGS tumor profiling provides information from a wide range of cancer-associated genes, including biomarkers that fulfill inclusion criteria for clinical trials. Test results may help in management decisions for patients with advanced or rare cancers, patients with cancer of unknown primary (CUP), or patients without adequate tumor specimen for sequential biomarker testing.4,5 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).6,7

Large NGS tumor profiling tests can also concurrently evaluate tumor mutational burden (TMB) and microsatellite instability (MSI).4 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.4

Tumor profiling tests were originally developed using tissue biopsies that require invasive acquisition procedures. More recently, blood-based testing (“liquid biopsy”) has been developed, providing a less invasive alternative that allows more patients to access tumor profiling by analyzing circulating tumor DNA (ctDNA). Tissue- and blood-based assays are complementary approaches that may be appropriate as standalone or sequential tests depending on the clinical situation. Quest offers such testing as standalone and reflex tests (Table 1). The complete gene lists for these tests are provided in the Appendix.

Table 1. Tests Available for Solid Tumor Genomic Profiling From Tissue and Blood Specimens

Test characteristic

Tissue specimens

Blood specimens (without/with reflex to tissue)

Test code(s) and name

14309 Solid TumorSEQ™ a,b

14308 LiquidSEQ™ a

14343 LiquidSEQ™ With Reflex to Solid TumorSEQ™ a,c

Individuals suitable for testing
  • Individuals with metastatic or advanced solid tumors
  • Individuals with rare tumor types
  • Individuals with CUP
  • Individuals with inadequate specimen for sequential testing of guideline-recommended biomarkers
  • Individuals with advanced or rare solid tumors for whom a tissue biopsy is unavailable, inappropriate, or insufficient
  • Individuals requiring expedited testing for critical care

Method overview

NGS of DNA from 523 genes and RNA from 55 genes

NGS of ctDNA from 523 genes

MSI and TMB are also evaluated

Analytical sensitivity
  • SNVs and indels: ≥5% variant allele frequency, size ≤25 bp
  • CNVs: amplification of ≥~2-fold and homozygous gene deletions
  • Fusions and splice variants: ≥10% variant allele frequency
  • SNVs: ≥0.2% variant allele frequency
  • Indels: ≥0.5% variant allele frequency, size ≤25 bp
  • CNVs: amplification of ~2-fold and whole-gene deletions
  • Fusions: ≥0.5% variant allele frequency
CNV, copy-number variant; ctDNA, circulating tumor DNA; CUP, cancer of unknown primary; indels, insertions/deletions; MSI, microsatellite instability; NGS, next-generation sequencing; SNV, single-nucleotide variant; TMB, tumor mutational burden.
a This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics med fusion. 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 a patient. Refer to the Quest Diagnostics Test Directory for further information: TestDirectory.QuestDiagnostics.com.
c Reflex occurs if no actionable biomarkers are detected or insufficient nucleic acid is obtained for testing. Reflex test is performed at an additional charge and is associated with an additional CPT code if no actionable biomarkers are detected. If insufficient nucleic acid is obtained for testing, then reflex is performed at no charge.

 

Solid TumorSEQ™ panel

NGS tumor profiling is increasingly recommended for evaluating many genomic biomarkers simultaneously (including TMB, which cannot be evaluated with smaller panels),4 as the cost of NGS decreases and its availability improves over time.3 The American Society of Clinical Oncology (ASCO) recommends multigene panel–based testing using NGS when 1 or more biomarkers inform the selection of approved therapies for the patient’s tumor type.4 Testing should also be considered to determine eligibility for tumor type–agnostic therapies that are linked to biomarkers such as gene fusions, TMB-H, and MSI-H.4

Solid TumorSEQ™ (test code 14309) is an NGS tumor profiling test that includes analysis of TMB, MSI, and over 500 cancer genes with actionable variants in solid tumors.

LiquidSEQ™ panel

Blood-based tumor profiling that assesses ctDNA (ie, DNA released by tumors into the blood) is an alternative approach to tissue-based profiling. ctDNA is a subset of cell-free DNA (cfDNA), which is extracted for analysis following a routine blood draw. Blood-based profiling is useful when an adequate tissue biopsy is unavailable and when testing needs to be expedited due to urgent patient need, given its shorter turnaround time.4,8 In patients without tissue-based test results, ASCO supports using results from blood-based profiling to guide treatment selection, especially when tissue is unavailable and new biopsies are not feasible.4

LiquidSEQ™ (test code 14308) includes analysis of TMB, MSI, and over 500 cancer genes that match those included in Solid TumorSEQ. Quest also offers LiquidSEQ™ With Reflex to Solid TumorSEQ™ (test code 14343), which reflexes to tissue-based profiling when insufficient cfDNA is obtained to perform LiquidSEQ or when no actionable variants are identified. The reflex from blood- to tissue-based profiling provides a timelier comprehensive assessment than sequential orders of the standalone tests and may be appropriate when feasibility or scheduling of tissue-based profiling is uncertain.

Individuals suitable for testing

  • See Table 1.

Methods

Solid TumorSEQ panel

  • DNA and RNA extracted from tumor tissue
  • NGS of DNA from 523 genes and RNA from 55 genes with
    • Libraries prepared from tumor DNA and RNA separately and enriched by hybridization capture
    • Sequencing performed on an Illumina NovaSeq 6000 with ≥100X coverage at ≥95% of all regions of interest
  • Includes 522 genes (full coding sequence) plus the TERT promoter, with detection of SNVs and indels (523 genes), CNVs (500 genes), fusions (55 genes), and splice variants (3 genes)

LiquidSEQ panel

  • cfDNA extracted from plasma prepared from whole blood
  • NGS of ctDNA from 523 genes with
    • Libraries prepared from cfDNA and enriched by hybridization capture
    • Sequencing performed on an Illumina NovaSeq 6000 with 1,000X coverage at ≥80% of all regions of interest
  • Includes 522 genes (full coding sequence) plus the TERT promoter, with detection of SNVs and indels (523 genes), CNVs (59 genes), and fusions (23 genes)

Both panels

  • Include MSI and TMB
  • Employ
    • A bioinformatics pipeline for reference genome (GRCh37.p13) alignment, variant calling, and quality control
    • Association for Molecular Pathology, ASCO, and College of American Pathologists joint reporting guidelines (Table 2) to classify variants2 

Interpretive information

For both the Solid TumorSEQ and LiquidSEQ panels, detected variants and their clinical significance are provided in the results. The variants are classified into tiers based on the strength of the current evidence for their clinical significance (Table 2). These tests only detect variants within targeted regions of the selected genes; promoter and intronic variants are not provided (except for the TERT promoter, fusions, and splice variants).

Table 2. Variant Classification Tiers

Tier2

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 these tests. 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).

Appendix

Test code

Test name

14308

LiquidSEQ™ a

Includes 500+ genes for assessment of all DNA variant types: ABL1, ABL2, ABRAXAS1, ACVR1, ACVR1B, ADGRA2, 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, CALR, CARD11, CASP8, CBFB, CBL, CCN6, 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, COP1, 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, ELOC, EML4, EMSY, 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, 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, GPS2, GREM1, GRIN2A, GRM3, GSK3B, H1-2, H2BC5, H3-3A, H3-3B, H3-4, H3-5, H3C1, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H3C10, H3C11, H3C12, H3C13, H3C14, H3C15, HGF, 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, MRE11, MSH2, MSH3, MSH6, MST1, MST1R, MTOR, MUTYH, MYB, MYC, MYCL, 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, PAK5, PALB2, 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, PRKN, 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, 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, TCF3, TCF7L2, TENT5C, 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, WT1, XIAP, XPO1, XRCC2, YAP1, YES1, ZBTB2, ZBTB7A, ZFHX3, ZNF217, ZNF703,and ZRSR2. Includes TMB and MSI analysis.
14309

Solid TumorSEQ™ a,b

Includes 500+ genes for assessment of all DNA variant types for all genes listed for LiquidSEQ™ (test code 14308), with additional testing of 55 genes for RNA fusions: 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 (splice site analysis also performed for AR, EGFR, and MET). 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 med fusion. 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 a patient. Refer to the Quest Diagnostics Test Directory for further information: TestDirectory.QuestDiagnostics.com.

 

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. 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
  5. 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
  6. 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
  7. 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
  8. Raez LE, Brice K, Dumais K, et al. Liquid biopsy versus tissue biopsy to determine front line therapy in metastatic non-small cell lung cancer (NSCLC). Clin Lung Cancer. 2023;24(2):120-129. doi:10.1016/j.cllc.2022.11.007

Content reviewed 3/2026

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These NGS tumor profiling tests are used to identify genomic variants and biomarkers in solid tumors.

Test Guide List

Solid Tumor Genomic Profiling Panels

Test Summary

 

Solid Tumor Genomic Profiling Panels

Test codes

Solid TumorSEQ™: 14309
LiquidSEQ™: 14308
LiquidSEQ™ With Reflex to Solid TumorSEQ™: 14343

 

Clinical use

  • Identify genomic variants and biomarkers in solid tumors that may aid clinical decision-making

Clinical background

Advances in precision medicine have helped reduce cancer mortality rates through personalized therapy approaches.1 Identification of “actionable” genomic variants present within a patient’s tumor can influence clinical decisions regarding diagnosis, prognosis, and treatment selection for that patient.2 Many of these variants serve as predictive biomarkers for response to targeted therapies and immunotherapies in a variety of solid tumor types.3 The list of actionable variants is dynamic and will expand as precision medicine advances.

Solid tumor profiling by next-generation sequencing

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.2 NGS tumor profiling tests can be designed to sequence full coding regions of targeted genes, allowing for detection of variants outside of hotspots.

NGS tumor profiling provides information from a wide range of cancer-associated genes, including biomarkers that fulfill inclusion criteria for clinical trials. Test results may help in management decisions for patients with advanced or rare cancers, patients with cancer of unknown primary (CUP), or patients without adequate tumor specimen for sequential biomarker testing.4,5 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).6,7

Large NGS tumor profiling tests can also concurrently evaluate tumor mutational burden (TMB) and microsatellite instability (MSI).4 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.4

Tumor profiling tests were originally developed using tissue biopsies that require invasive acquisition procedures. More recently, blood-based testing (“liquid biopsy”) has been developed, providing a less invasive alternative that allows more patients to access tumor profiling by analyzing circulating tumor DNA (ctDNA). Tissue- and blood-based assays are complementary approaches that may be appropriate as standalone or sequential tests depending on the clinical situation. Quest offers such testing as standalone and reflex tests (Table 1). The complete gene lists for these tests are provided in the Appendix.

Table 1. Tests Available for Solid Tumor Genomic Profiling From Tissue and Blood Specimens

Test characteristic

Tissue specimens

Blood specimens (without/with reflex to tissue)

Test code(s) and name

14309 Solid TumorSEQ™ a,b

14308 LiquidSEQ™ a

14343 LiquidSEQ™ With Reflex to Solid TumorSEQ™ a,c

Individuals suitable for testing
  • Individuals with metastatic or advanced solid tumors
  • Individuals with rare tumor types
  • Individuals with CUP
  • Individuals with inadequate specimen for sequential testing of guideline-recommended biomarkers
  • Individuals with advanced or rare solid tumors for whom a tissue biopsy is unavailable, inappropriate, or insufficient
  • Individuals requiring expedited testing for critical care

Method overview

NGS of DNA from 523 genes and RNA from 55 genes

NGS of ctDNA from 523 genes

MSI and TMB are also evaluated

Analytical sensitivity
  • SNVs and indels: ≥5% variant allele frequency, size ≤25 bp
  • CNVs: amplification of ≥~2-fold and homozygous gene deletions
  • Fusions and splice variants: ≥10% variant allele frequency
  • SNVs: ≥0.2% variant allele frequency
  • Indels: ≥0.5% variant allele frequency, size ≤25 bp
  • CNVs: amplification of ~2-fold and whole-gene deletions
  • Fusions: ≥0.5% variant allele frequency
CNV, copy-number variant; ctDNA, circulating tumor DNA; CUP, cancer of unknown primary; indels, insertions/deletions; MSI, microsatellite instability; NGS, next-generation sequencing; SNV, single-nucleotide variant; TMB, tumor mutational burden.
a This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics med fusion. 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 a patient. Refer to the Quest Diagnostics Test Directory for further information: TestDirectory.QuestDiagnostics.com.
c Reflex occurs if no actionable biomarkers are detected or insufficient nucleic acid is obtained for testing. Reflex test is performed at an additional charge and is associated with an additional CPT code if no actionable biomarkers are detected. If insufficient nucleic acid is obtained for testing, then reflex is performed at no charge.

 

Solid TumorSEQ™ panel

NGS tumor profiling is increasingly recommended for evaluating many genomic biomarkers simultaneously (including TMB, which cannot be evaluated with smaller panels),4 as the cost of NGS decreases and its availability improves over time.3 The American Society of Clinical Oncology (ASCO) recommends multigene panel–based testing using NGS when 1 or more biomarkers inform the selection of approved therapies for the patient’s tumor type.4 Testing should also be considered to determine eligibility for tumor type–agnostic therapies that are linked to biomarkers such as gene fusions, TMB-H, and MSI-H.4

Solid TumorSEQ™ (test code 14309) is an NGS tumor profiling test that includes analysis of TMB, MSI, and over 500 cancer genes with actionable variants in solid tumors.

LiquidSEQ™ panel

Blood-based tumor profiling that assesses ctDNA (ie, DNA released by tumors into the blood) is an alternative approach to tissue-based profiling. ctDNA is a subset of cell-free DNA (cfDNA), which is extracted for analysis following a routine blood draw. Blood-based profiling is useful when an adequate tissue biopsy is unavailable and when testing needs to be expedited due to urgent patient need, given its shorter turnaround time.4,8 In patients without tissue-based test results, ASCO supports using results from blood-based profiling to guide treatment selection, especially when tissue is unavailable and new biopsies are not feasible.4

LiquidSEQ™ (test code 14308) includes analysis of TMB, MSI, and over 500 cancer genes that match those included in Solid TumorSEQ. Quest also offers LiquidSEQ™ With Reflex to Solid TumorSEQ™ (test code 14343), which reflexes to tissue-based profiling when insufficient cfDNA is obtained to perform LiquidSEQ or when no actionable variants are identified. The reflex from blood- to tissue-based profiling provides a timelier comprehensive assessment than sequential orders of the standalone tests and may be appropriate when feasibility or scheduling of tissue-based profiling is uncertain.

Individuals suitable for testing

  • See Table 1.

Methods

Solid TumorSEQ panel

  • DNA and RNA extracted from tumor tissue
  • NGS of DNA from 523 genes and RNA from 55 genes with
    • Libraries prepared from tumor DNA and RNA separately and enriched by hybridization capture
    • Sequencing performed on an Illumina NovaSeq 6000 with ≥100X coverage at ≥95% of all regions of interest
  • Includes 522 genes (full coding sequence) plus the TERT promoter, with detection of SNVs and indels (523 genes), CNVs (500 genes), fusions (55 genes), and splice variants (3 genes)

LiquidSEQ panel

  • cfDNA extracted from plasma prepared from whole blood
  • NGS of ctDNA from 523 genes with
    • Libraries prepared from cfDNA and enriched by hybridization capture
    • Sequencing performed on an Illumina NovaSeq 6000 with 1,000X coverage at ≥80% of all regions of interest
  • Includes 522 genes (full coding sequence) plus the TERT promoter, with detection of SNVs and indels (523 genes), CNVs (59 genes), and fusions (23 genes)

Both panels

  • Include MSI and TMB
  • Employ
    • A bioinformatics pipeline for reference genome (GRCh37.p13) alignment, variant calling, and quality control
    • Association for Molecular Pathology, ASCO, and College of American Pathologists joint reporting guidelines (Table 2) to classify variants2 

Interpretive information

For both the Solid TumorSEQ and LiquidSEQ panels, detected variants and their clinical significance are provided in the results. The variants are classified into tiers based on the strength of the current evidence for their clinical significance (Table 2). These tests only detect variants within targeted regions of the selected genes; promoter and intronic variants are not provided (except for the TERT promoter, fusions, and splice variants).

Table 2. Variant Classification Tiers

Tier2

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 these tests. 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).

Appendix

Test code

Test name

14308

LiquidSEQ™ a

Includes 500+ genes for assessment of all DNA variant types: ABL1, ABL2, ABRAXAS1, ACVR1, ACVR1B, ADGRA2, 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, CALR, CARD11, CASP8, CBFB, CBL, CCN6, 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, COP1, 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, ELOC, EML4, EMSY, 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, 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, GPS2, GREM1, GRIN2A, GRM3, GSK3B, H1-2, H2BC5, H3-3A, H3-3B, H3-4, H3-5, H3C1, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H3C10, H3C11, H3C12, H3C13, H3C14, H3C15, HGF, 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, MRE11, MSH2, MSH3, MSH6, MST1, MST1R, MTOR, MUTYH, MYB, MYC, MYCL, 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, PAK5, PALB2, 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, PRKN, 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, 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, TCF3, TCF7L2, TENT5C, 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, WT1, XIAP, XPO1, XRCC2, YAP1, YES1, ZBTB2, ZBTB7A, ZFHX3, ZNF217, ZNF703,and ZRSR2. Includes TMB and MSI analysis.
14309

Solid TumorSEQ™ a,b

Includes 500+ genes for assessment of all DNA variant types for all genes listed for LiquidSEQ™ (test code 14308), with additional testing of 55 genes for RNA fusions: 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 (splice site analysis also performed for AR, EGFR, and MET). 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 med fusion. 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 a patient. Refer to the Quest Diagnostics Test Directory for further information: TestDirectory.QuestDiagnostics.com.

 

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. 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
  5. 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
  6. 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
  7. 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
  8. Raez LE, Brice K, Dumais K, et al. Liquid biopsy versus tissue biopsy to determine front line therapy in metastatic non-small cell lung cancer (NSCLC). Clin Lung Cancer. 2023;24(2):120-129. doi:10.1016/j.cllc.2022.11.007

Content reviewed 3/2026

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