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Plasma Detect Genome MRD - Monitoring

CPT

81479

Test Details

Methodology

Whole genome sequencing data of plasma obtained from peripheral whole blood specimens of monitoring specimens is compared with baseline sequencing data from tumor-informed whole genome sequencing utilizing matched FFPE tumor tissue, white blood cells and plasma obtained from peripheral whole blood. 

Nucleic acid extraction is performed on plasma from peripheral whole blood from the monitoring specimen and next-generation sequencing libraries are prepared for cell-free DNA, which are then sequenced. Data analysis is performed for alignment, quality control analyses, single nucleotide variant calling and filtering to provide the overall status for detectable ctDNA along with an estimate of tumor content. The analytical sensitivity of the Labcorp Plasma Detect Genome MRD tests is 0.005% tumor content with 99.4% analytical specificity.

Use

The Labcorp Plasma Detect Genome MRD tests are intended for the detection of circulating tumor DNA (ctDNA) in stage III colon cancer patients after surgery or adjuvant chemotherapy to identify individuals who may have an increased risk of recurrence. Emerging evidence supports the clinical utility of detection of ctDNA in the diagnosis of disease progression, recurrence and/or relapse in advanced colorectal cancer. Patients with detectable ctDNA after surgery or adjuvant chemotherapy are at an increased risk of recurrence compared to patients without detectable ctDNA. ctDNA level (%) represents the proportion of the cell-free DNA sample that exhibits evidence of tumor-specific single nucleotide variants.

Special Instructions

This test currently is not approved for use in New York state.

Limitations

The analytical sensitivity of the Labcorp Plasma Detect Genome MRD tests may be limited by insufficient coverage in specific regions of the genome, inability to distinguish highly related human sequences and sequencing or other technical errors. The analysis of genetic alterations can also be hampered by multiple aspects related to the sample and DNA. Low quantity of DNA obtained can limit the amount of DNA molecules that can be successfully analyzed by next generation sequencing. 

The variant allele frequency and number of tumor-specific molecules depends on various factors including sample collection timing (post-surgery or while on therapy), pre-analytical sample processing and clinical characteristics unrelated to tumor status. The concentration of tumor-derived DNA can be a factor, as a portion of the DNA analyzed may be derived from contaminating normal cells. 

A negative result does not definitely indicate the absence of cancer. ctDNA dynamics may also reflect overall tumor burden response as a result of clinical intervention or during surveillance through longitudinal assessments. 

The Labcorp Plasma Detect Genome MRD tests are designed to detect ctDNA derived from the assayed tumor only and has not been validated to detect new primary tumors. 

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Specimen Requirements

Specimen

Whole blood collected in a cell-free DNA BCT (Streck tube)

Volume

20 mL whole blood collected in two cell-free DNA BCT (Streck tubes)

Minimum Volume

10 mL whole blood collected in a cell-free DNA BCT (Streck tube)

Collection Instructions

Whole blood: Samples collected in cell-free DNA BCT are stable for up to seven days at temperatures between 2°C and 30°C. Indicate date and time of collection on test request form.

Causes for Rejection

Whole blood: Any tube type that is not cell-free DNA BCT (Streck tube)

References

Alarcon CR, et al. Circulating tumour DNA ctDNA) in patients with stage III colon cancer: the multicentre prospective PROVENC3 study. British Journal of Surgery, in press.

Alarcon, CR, Georgiadis A, Franken IA, et al. Clinical validity of post-surgery circulating tumor DNA testing in stage III colon cancer patients treated with adjuvant chemotherapy: The PROVENC3 study. Cancer Res. 2024 Mar 15;84(6)Suppl:6559-6559.

Burbach JPM, Kurk SA, Coebergh van den Braak RRJ, et al. Prospective Dutch colorectal Cancer cohort: an infrastructure for long-term observational, prognostic, predictive and (randomized) intervention research. Acta Oncol. 2016 Nov;55(11):1273-1280. Epub 2016 Aug 25. PubMed 27560599

Henriksen TV, Tarazona N, Frydendahl A, et al. Circulating Tumor DNA in Stage III Colorectal Cancer, beyond Minimal Residual Disease Detection, toward Assessment of Adjuvant Therapy Efficacy and Clinical Behavior of Recurrences. Clin Cancer Res. 2022 Feb 1;28(3):507-517. Epub 2021 Oct 8. PubMed 34625408

Kotani D, Oki E, Nakamura Y, et al. Molecular residual disease and efficacy of adjuvant chemotherapy in patients with colorectal cancer. Nat Med. 2023 Jan;29(1):127-134. Epub 2023 Jan 16. PubMed 36646802

Schraa SJ, van Rooijen KL, van der Kruijssen DEW, et al. Circulating tumor DNA guided adjuvant chemotherapy in stage II colon cancer (MEDOCC-CrEATE): study protocol for a trial within a cohort study. BMC Cancer. 2020 Aug 20;20(1):790. PubMed 32819390

Tie J, Cohen JD, Lahouel K, et al. Circulating Tumor DNA Analysis Guiding Adjuvant Therapy in Stage II Colon Cancer. N Engl J Med. 2022 Jun 16;386(24):2261-2272. Epub 2022 Jun 4. PubMed 35657320

Tie J, Cohen JD, Wang Y, et al. Circulating Tumor DNA Analyses as Markers of Recurrence Risk and Benefit of Adjuvant Therapy for Stage III Colon Cancer. JAMA Oncol. 2019 Dec 1;5(12):1710-1717. Erratum in: JAMA Oncol. 2019 Dec 1;5(12):1811. PubMed 31621801

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
484551 PlasmaDetectGenome MRD-Monitor REQUEST 484561 Specimen Type Pending
484551 PlasmaDetectGenome MRD-Monitor REQUEST 484552 ctDNA status Pending
484551 PlasmaDetectGenome MRD-Monitor REQUEST 484445 %ctDNA Pending
484551 PlasmaDetectGenome MRD-Monitor REQUEST 484555 Background Pending
484551 PlasmaDetectGenome MRD-Monitor REQUEST 484556 Method Pending
484551 PlasmaDetectGenome MRD-Monitor REQUEST 484557 References Pending
484551 PlasmaDetectGenome MRD-Monitor REQUEST 484558 Director Review Pending
484551 PlasmaDetectGenome MRD-Monitor REQUEST 511958 PDF 80563-0
Order Code484551
Order Code NamePlasmaDetectGenome MRD-Monitor
Order LoincREQUEST
Result Code484561
Result Code NameSpecimen Type
UofM
Result LOINCPending
Order Code484551
Order Code NamePlasmaDetectGenome MRD-Monitor
Order LoincREQUEST
Result Code484552
Result Code NamectDNA status
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Result LOINCPending
Order Code484551
Order Code NamePlasmaDetectGenome MRD-Monitor
Order LoincREQUEST
Result Code484445
Result Code Name%ctDNA
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Result LOINCPending
Order Code484551
Order Code NamePlasmaDetectGenome MRD-Monitor
Order LoincREQUEST
Result Code484555
Result Code NameBackground
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Result LOINCPending
Order Code484551
Order Code NamePlasmaDetectGenome MRD-Monitor
Order LoincREQUEST
Result Code484556
Result Code NameMethod
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Result LOINCPending
Order Code484551
Order Code NamePlasmaDetectGenome MRD-Monitor
Order LoincREQUEST
Result Code484557
Result Code NameReferences
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Order Code484551
Order Code NamePlasmaDetectGenome MRD-Monitor
Order LoincREQUEST
Result Code484558
Result Code NameDirector Review
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Result LOINCPending
Order Code484551
Order Code NamePlasmaDetectGenome MRD-Monitor
Order LoincREQUEST
Result Code511958
Result Code NamePDF
UofM
Result LOINC80563-0