SOPHiA MSK-ACCESS

Blood-based tumor genomic profiling via circulating tumor DNA — powered by SOPHiA DDM™ analytics

14 business daysSOPHiA DDM™ Platform (Cell-free DNA targeted sequencing)Blood sample (two 10 mL Streck cell-free DNA blood collection tubes)

What is this test?

SOPHiA MSK-ACCESS is a liquid biopsy test powered by the SOPHiA DDM™ (Data-Driven Medicine) bioinformatics platform — detecting cancer-related genetic mutations from a simple blood draw, no surgery or tissue biopsy required. Tumors constantly shed tiny fragments of DNA (ctDNA) into the bloodstream. Our liquid biopsy panel captures and sequences this circulating tumor DNA using SOPHiA's AI-driven analysis to identify actionable mutations, monitor treatment response, and detect cancer recurrence early.

Key Benefits

No Surgery Required

A simple blood draw replaces the need for invasive tissue biopsies — reducing risk, discomfort, and time to results.

Real-Time Monitoring

Serial liquid biopsies can track treatment response by monitoring changes in mutation allele frequencies — an early indicator of whether therapy is working.

Captures Tumor Heterogeneity

While a tissue biopsy samples one location, liquid biopsy captures ctDNA shed from all tumor sites, potentially revealing mutations missed by a single biopsy.

Early Recurrence Detection

ctDNA can become detectable weeks to months before imaging shows visible tumor recurrence, enabling earlier intervention.

How It Works

Blood Draw

Two tubes of blood are collected using specialized Streck cell-free DNA collection tubes that preserve ctDNA integrity. No fasting or special preparation required.

Plasma Separation & cfDNA Extraction

Plasma is separated from whole blood, and circulating cell-free DNA (both normal and tumor-derived) is extracted using optimized protocols.

Targeted Deep Sequencing

ctDNA undergoes ultra-deep targeted sequencing at >10,000x coverage of cancer-relevant genes to detect mutations present at very low allele frequencies.

Bioinformatics & Noise Filtering

Specialized algorithms distinguish true tumor-derived variants from sequencing noise, clonal hematopoiesis of indeterminate potential (CHIP), and background error.

Clinical Report

Results report all detected somatic mutations, their allele frequencies (reflecting tumor burden), and actionable therapy associations. Serial testing can track mutation dynamics over time.

Who should consider this test?

Cancer patients where a tissue biopsy is difficult, risky, or not feasible
Patients monitoring response to targeted therapy or immunotherapy
Those seeking early detection of cancer recurrence after treatment
Patients with multiple metastatic sites where a single biopsy may not represent all disease
As a complement to tissue-based testing for a more complete molecular picture

Conditions Screened

Actionable somatic mutations across major solid tumors (EGFR, KRAS, BRAF, PIK3CA, etc.)Resistance mutations emerging during targeted therapy (e.g., EGFR T790M, ESR1)Gene fusions (ALK, ROS1, RET, NTRK)Minimal residual disease (MRD) monitoringTreatment response monitoring via allele frequency dynamics

Accuracy & Clinical Evidence

Test Accuracy

Detects somatic mutations at allele frequencies as low as 0.1-0.5% in circulating tumor DNA, depending on tumor shedding rate and variant type. Analytical sensitivity >99% for known hotspot mutations above the limit of detection.

Liquid biopsy has been validated across multiple cancer types with FDA-approved companion diagnostic indications for specific biomarkers (e.g., EGFR mutations in lung cancer). Studies demonstrate that ctDNA dynamics correlate with radiographic response and can predict progression weeks before imaging.

For Healthcare Providers

Liquid biopsy panel uses targeted capture-based NGS of cfDNA from plasma with ultra-deep sequencing (>10,000x unique molecular identifier-deduplicated coverage). The assay detects SNVs, short indels, CNVs, and select fusions across cancer-relevant genes. Molecular barcoding (UMIs) enables variant detection at 0.1-0.5% allele frequency. CHIP variants are filtered using internal databases and variant allele frequency patterns. Reporting follows AMP/ASCO/CAP tiered classification. Serial testing supported for treatment monitoring.

Important Limitations

Not all tumors shed detectable levels of ctDNA — low tumor burden or certain tumor types may yield insufficient ctDNA for analysis.
Clonal hematopoiesis of indeterminate potential (CHIP) can produce false-positive somatic-appearing mutations, particularly in older patients.
Liquid biopsy may miss some mutations detected by tissue-based testing, especially in tumors with low ctDNA shedding.
A negative liquid biopsy result does not rule out the presence of actionable mutations in the tumor — tissue testing may still be recommended.
This test analyzes somatic (tumor) mutations only and does not assess inherited cancer risk.