GTR Test Accession:
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GTR000527948.7
NYS CLEP
Last updated in GTR:
2021-08-12
View version history
GTR000527948.7,
last updated:
2021-08-12
GTR000527948.6,
last updated:
2020-01-23
GTR000527948.5,
last updated:
2018-01-17
GTR000527948.4,
last updated:
2017-01-06
GTR000527948.3,
last updated:
2015-10-22
GTR000527948.2,
last updated:
2015-08-31
GTR000527948.1,
registered in GTR:
2015-08-28
Last annual review date for the lab: 2024-10-15
LinkOut
At a Glance
Test purpose:
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Therapeutic management
Conditions (1):
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Solid tumor
Analytes (1):
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Microsatellite Instability
Genes (83):
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Methods (3):
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Molecular Genetics - Microsatellite instability testing (MSI): Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Patients with a solid tumor cancer
Clinical validity:
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Matched tumor samples obtained for multiple cancer types in which …
Clinical utility:
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Avoidance of invasive testing;
Guidance for management
Ordering Information
Offered by:
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Specimen Source:
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- Cell-free DNA
Who can order: Help
- Licensed Physician
Lab contact:
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Contact Policy:
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Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order:
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Licensed physician contacts Guardant Health client services for ordering information. Contact information available at:
https://www.guardanthealth.com/medical-professionals
Order URL
https://www.guardanthealth.com/medical-professionals
Order URL
Test service:
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Liquid biopsy testing for somatic cancer gene variants
Test development:
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Test developed by laboratory (no manufacturer test name)
Informed consent required:
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Decline to answer
Test strategy:
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An approved physician with a Guardant Health account uses the Guardant sample collection kit to obtain a whole blood sample from the patient. Following Guardant shipping instructions, the sample is sent directly to the laboratory at Guardant Health. Turn around time for testing is 10 days.
Pre-test genetic counseling required:
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Decline to answer
Post-test genetic counseling required:
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Decline to answer
Recommended fields not provided:
Test Order Code
Conditions
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Total conditions: 1
| Condition/Phenotype | Identifier |
|---|
Test Targets
Analytes
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Total analytes: 1
| Analyte | Associated Condition |
|---|
Genes
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Total genes: 83
| Gene | Associated Condition | Germline or Somatic | Allele (Lab-provided) | Variant in NCBI |
|---|
Methodology
Total methods: 3
Method Category
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Test method
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Instrument
Microsatellite instability testing (MSI)
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of select exons
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Other
Targeted variant analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Other
Clinical Information
Test purpose:
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Therapeutic management
Clinical validity:
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Matched tumor samples obtained for multiple cancer types in which variants were verified by external laboratories were used in clinical validity studies.
View citations (1)
- Lanman RB, Mortimer SA, Zill OA, Sebisanovic D, Lopez R, Blau S, Collisson EA, Divers SG, Hoon DS, Kopetz ES, Lee J, Nikolinakos PG, Baca AM, Kermani BG, Eltoukhy H, Talasaz A. Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA. PLoS One. 2015;10(10):e0140712. doi:10.1371/journal.pone.0140712. Epub 2015 Oct 16. PMID: 26474073.
Clinical utility:
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Avoidance of invasive testing
Guidance for management
Guidance for management
Target population:
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Patients with a solid tumor cancer
View citations (2)
- Lanman RB, Mortimer SA, Zill OA, Sebisanovic D, Lopez R, Blau S, Collisson EA, Divers SG, Hoon DS, Kopetz ES, Lee J, Nikolinakos PG, Baca AM, Kermani BG, Eltoukhy H, Talasaz A. Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA. PLoS One. 2015;10(10):e0140712. doi:10.1371/journal.pone.0140712. Epub 2015 Oct 16. PMID: 26474073.
- Odegaard JI, Vincent JJ, Mortimer S, Vowles JV, Ulrich BC, Banks KC, Fairclough SR, Zill OA, Sikora M, Mokhtari R, Abdueva D, Nagy RJ, Lee CE, Kiedrowski LA, Paweletz CP, Eltoukhy H, Lanman RB, Chudova DI, Talasaz A. Validation of a Plasma-Based Comprehensive Cancer Genotyping Assay Utilizing Orthogonal Tissue- and Plasma-Based Methodologies. Clin Cancer Res. 2018;24(15):3539-3549. doi:10.1158/1078-0432.CCR-17-3831. Epub 2018 Apr 24. PMID: 29691297.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS?
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Somatic gene variants of uncertain significance are reported but not associated with FDA approved drugs or clinical trials. Only gene variants reported in the peer-reviewed literature as functional are associated with treatments or trials.
Somatic gene variants of uncertain significance are reported but not associated with FDA approved drugs or clinical trials. Only gene variants reported in the peer-reviewed literature as functional are associated with treatments or trials.
Are family members with defined clinical status recruited to assess significance of VUS without charge?
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No. Not relevant as germline variants are not currently reported.
No. Not relevant as germline variants are not currently reported.
Will the lab re-contact the ordering physician if variant interpretation changes?
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Not provided.
Not provided.
Recommended fields not provided:
Will the lab re-contact the ordering physician if variant interpretation changes?,
Is research allowed on the sample after clinical testing is complete?,
Sample negative report,
Sample positive report
Technical Information
Test Procedure:
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Cell free DNA is isolated from whole blood. Following DNA library preparation, next generation sequencing of specific gene regions is performed. Reports provide details of variants detected and any relevant clinical information.
View citations (3)
- Zill OA, Greene C, Sebisanovic D, Siew LM, Leng J, Vu M, Hendifar AE, Wang Z, Atreya CE, Kelley RK, Van Loon K, Ko AH, Tempero MA, Bivona TG, Munster PN, Talasaz A, Collisson EA. Cell-Free DNA Next-Generation Sequencing in Pancreatobiliary Carcinomas. Cancer Discov. 2015;5(10):1040-8. doi:10.1158/2159-8290.CD-15-0274. Epub 2015 Jun 24. PMID: 26109333.
- Ko AH, Bekaii-Saab T, Van Ziffle J, Mirzoeva OM, Joseph NM, Talasaz A, Kuhn P, Tempero MA, Collisson EA, Kelley RK, Venook AP, Dito E, Ong A, Ziyeh S, Courtin R, Linetskaya R, Tahiri S, Korn WM. A Multicenter, Open-Label Phase II Clinical Trial of Combined MEK plus EGFR Inhibition for Chemotherapy-Refractory Advanced Pancreatic Adenocarcinoma. Clin Cancer Res. 2016;22(1):61-8. doi:10.1158/1078-0432.CCR-15-0979. Epub 2015 Aug 06. PMID: 26251290.
- Prospective blinded study of somatic mutation detection in cell-free DNA utilizing a targeted 54-gene next generation sequencing panel in metastatic solid tumor patients. Kim ST, et al. Oncotarget. 2015;6(37):40360-9. doi:10.18632/oncotarget.5465. PMID: 26452027.
Test Platform:
None/not applicable
Test Comments:
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The test detects single nucleotide variants in a targeted panel of 83 genes, and selected copy number amplifications, fusions/rearrangements, and indels for a specific set of genes. All four types of genomic alterations are reported in a single test.
The following genes are sequenced: AKT1; ALK; APC; AR; ARAF; ARID1A; ATM; BRAF; BRCA1; BRCA2; CCND1; CCND2; CCNE1; CDH1; CDK4; CDK6; CDK12; CDKN2A; CHEK2; CTNNB1; DDR2; EGFR; ERBB2; ESR1; EZH2; FANCA; FBXW7; FGFR1; FGFR2; FGFR3; GATA3; GNA11; GNAQ; GNAS; HNF1A; HRAS; IDH1; IDH2; JAK2; JAK3; KEAP1; KIT; KRAS; MAP2K1; MAP2K2; … View more
The following genes are also analyzed for copy number amplifications: AR; BRAF; CCND1; CCND2; CCNE1; CDK4; CDK6; EGFR; ERBB2; ESR1; FGFR1; FGFR2; KIT; KRAS; MET; MYC; PDGFRA; PIK3CA; and RAF1.
The following genes are also analyzed for fusions/rearrangements: ALK; BRAF; EGFR; FGFR1; FGFR3; MET; NTRK1; NTRK2; NTRK3; RET; and ROS1. The assay detects all known gene fusion partners for these rearrangements.
The following genes are also analyzed for indels: AKT1; ALK; APC; AR; ARAF; ARID1A; ATM; BRAF; BRCA1; BRCA2; CCND1; CCND2; CCNE1; CDH1; CDK4; CDK6; CDK12; CDKN2A; CHEK2; CTNNB1; DDR2; EGFR; ERBB2; ESR1; EZH2; FANCA; FBXW7; FGFR1; FGFR2; FGFR3; GATA3; GNA11; GNAQ; GNAS; HNF1A; HRAS; IDH1; IDH2; JAK2; JAK3; KEAP1; KIT; … View more
In addition, Microsatellite Instability (MSI) is qualitatively assessed for all tumor types by evaluating somatic changes in the length of specific microsatellites (i.e. repetitive sequences).
Tumor mutational burden (TMB) score is calculated for all cancer types from somatic SNVs and indels in exons of the genes comprising the Guardant360 panel by adjusting for tumor shedding levels and the size of the panel.
The following genes are sequenced: AKT1; ALK; APC; AR; ARAF; ARID1A; ATM; BRAF; BRCA1; BRCA2; CCND1; CCND2; CCNE1; CDH1; CDK4; CDK6; CDK12; CDKN2A; CHEK2; CTNNB1; DDR2; EGFR; ERBB2; ESR1; EZH2; FANCA; FBXW7; FGFR1; FGFR2; FGFR3; GATA3; GNA11; GNAQ; GNAS; HNF1A; HRAS; IDH1; IDH2; JAK2; JAK3; KEAP1; KIT; KRAS; MAP2K1; MAP2K2; … View more
The following genes are also analyzed for copy number amplifications: AR; BRAF; CCND1; CCND2; CCNE1; CDK4; CDK6; EGFR; ERBB2; ESR1; FGFR1; FGFR2; KIT; KRAS; MET; MYC; PDGFRA; PIK3CA; and RAF1.
The following genes are also analyzed for fusions/rearrangements: ALK; BRAF; EGFR; FGFR1; FGFR3; MET; NTRK1; NTRK2; NTRK3; RET; and ROS1. The assay detects all known gene fusion partners for these rearrangements.
The following genes are also analyzed for indels: AKT1; ALK; APC; AR; ARAF; ARID1A; ATM; BRAF; BRCA1; BRCA2; CCND1; CCND2; CCNE1; CDH1; CDK4; CDK6; CDK12; CDKN2A; CHEK2; CTNNB1; DDR2; EGFR; ERBB2; ESR1; EZH2; FANCA; FBXW7; FGFR1; FGFR2; FGFR3; GATA3; GNA11; GNAQ; GNAS; HNF1A; HRAS; IDH1; IDH2; JAK2; JAK3; KEAP1; KIT; … View more
In addition, Microsatellite Instability (MSI) is qualitatively assessed for all tumor types by evaluating somatic changes in the length of specific microsatellites (i.e. repetitive sequences).
Tumor mutational burden (TMB) score is calculated for all cancer types from somatic SNVs and indels in exons of the genes comprising the Guardant360 panel by adjusting for tumor shedding levels and the size of the panel.
Availability:
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Tests performed
Entire test performed in-house
Test performance comments
The Guardant Health laboratory is located in Redwood City, California
Entire test performed in-house
Test performance comments
The Guardant Health laboratory is located in Redwood City, California
Analytical Validity:
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Analytical sensitivity, specificity, accuracy, precision, reference range and reportable range have been established using synthetic controls, cell lines, and tumor matched samples. Over 1000 samples have been used to date in validity studies.
View citations (1)
- Lanman RB, Mortimer SA, Zill OA, Sebisanovic D, Lopez R, Blau S, Collisson EA, Divers SG, Hoon DS, Kopetz ES, Lee J, Nikolinakos PG, Baca AM, Kermani BG, Eltoukhy H, Talasaz A. Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA. PLoS One. 2015;10(10):e0140712. doi:10.1371/journal.pone.0140712. Epub 2015 Oct 16. PMID: 26474073.
Assay limitations:
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The minimum detectable mutant allele (limit of detection) is dependent on the patient's sample cell-free DNA concentration, which can vary from less than 10 to over 1000 genomic equivalents per mL of peripheral blood. Certain sample characteristics may interfere with the accurate determination of copy number variants. Certain sample or …
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Proficiency testing (PT):
Is proficiency testing performed for this test?
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Yes
Method used for proficiency testing: Help
Alternative Assessment
Description of PT method: Help
Remnant samples are blind tested in the CLIA laboratory.
Yes
Method used for proficiency testing: Help
Alternative Assessment
Description of PT method: Help
Remnant samples are blind tested in the CLIA laboratory.
Recommended fields not provided:
Test Confirmation,
Citations to support assay limitations,
Description of internal test validation method,
PT Provider,
Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review:
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Category:
FDA exercises enforcement discretion
NYS CLEP Approval:
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Number:
9006
Status: Approved
Status: Approved
Additional Information
Reviews:
Clinical resources:
Consumer resources:
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with specific questions about a genetic test should contact a health care provider or a genetics professional.