Minimal Residual Disease (MRD)

Key advantages

• Ultra-sensitive detection of residual tumor cells below conventional limits

• Quantitative measurement enabling dynamic monitoring of disease burden

• Applicable to hematologic malignancies such as leukemia, lymphoma, and multiple myeloma

• Supports clinical decision-making for treatment adjustment and early relapse detection

• Compatible with DNA, RNA, and flow cytometry-based assays

• High specificity through targeted sequencing of tumor-specific mutations

• Facilitates longitudinal tracking to assess minimal disease dynamics over time

• Integration with patient clinical data for comprehensive disease management

Technical specifications

• Assay types: Targeted ultra-deep sequencing (amplicon or capture-based)

• Sensitivity: Detection limits down to 10^-5 to 10^-6 variant allele frequency (VAF) depending on assay and input DNA quantity

• Sample types: Peripheral blood, bone marrow aspirates, cell-free DNA (cfDNA) from plasma

• Target selection: Custom panels designed based on patient-specific tumor mutations identified by prior WGS/WES or targeted panel sequencing

• Sequencing platforms: Illumina NovaSeq, NextSeq, or equivalent, ensuring high read depth (>100,000× coverage) for robust detection

• Bioinformatics pipeline:

  • Error suppression algorithms to distinguish true low-frequency variants from sequencing noise

  • Unique Molecular Identifiers (UMIs) for error correction and increased accuracy

  • Variant calling optimized for low VAF detection with tools such as LoFreq, VarDict, and Manta

  • Longitudinal data integration to track mutation dynamics and clonal evolution

  • Automated reporting with variant allele frequency quantification, trends over time, and clinical interpretation notes

• Data outputs: VCF files with annotated variants, quantitative MRD reports in PDF/HTML, and integration-ready datasets for clinical systems

• Quality control: Rigorous QC metrics including read depth, UMI family size distribution, and contamination checks

• Compliance: Procedures aligned with clinical regulatory standards (e.g., CLIA, CAP) for potential diagnostic applications

• Turnaround time: Typically 7–10 days from sample receipt, optimized for rapid clinical decision-making