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NGS Technology-Based Assay Detects Minimal Residual Disease in Patients with Lymphatic Hematological Tumors

By LabMedica International staff writers
Posted on 20 Apr 2022

A new assay based on high-throughput next generation sequencing (NGS) technology can test the CDR3 regional sequence of the IgH/K/L gene of the B cell receptor (BCR) in bone marrow samples collected from patients with B lymphpocytic leukemia (B-ALL/CLL) and multiple myeloma (MM) before and after the treatment. By screening out significant and specific clonal rearrangement form in a patient's tumor cells, this approach can detect minimal residual disease and provide a reference for the follow-up treatment of cancer survivors.

Genetron Health’s (Beijing, China) proprietary Human B Lymphocyte Minimal Residual Disease Detection Kit (Reversible Termination Sequencing Method), which is also known as Seq-MRD, has been optimized with the company’s “One-step Seq Method” technology, which enables the DNA library construction process for gene sequencing to finish with a single PCR and minimizes the risks of sample contamination and false positive results. This simple operational feature, combined with the company’s automated bioinformatics analysis solution, enables Seq-MRD to have broad application prospects due to its key technological advantages of high throughput, fast turnaround, stability and accuracy, and high cost-efficiency.

Recently, an experiment was completed that identified the assay performance in various perspectives, such as sensitivity, accuracy, specificity and precision, among which, 128 clinically confirmed samples showed a high concordance on positive detection results from the Seq-MRD assay and the traditional technology of flow cytometry (FCM). More importantly, there were 10 samples detected as positive by Seq-MRD assay, which were identified as negative by FCM, demonstrating the higher sensitivity of the assay. Seq-MRD has received a CE Mark, allowing it to be distributed throughout the EU countries as well as the UK.

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