What is Liquid Biopsy Testing?

Helping Pharma companies develop Precision medicine using Clinical Data & AI.

What is Liquid Biopsy Testing?

Liquid biopsy is a revolutionary, non-invasive alternative to traditional surgical biopsies. By analyzing a simple blood draw, GeneHealth’s liquid biopsy detects cancer-derived biomarkers—primarily circulating tumor DNA (ctDNA) and cell-free DNA (cfDNA)—shed into the bloodstream by solid tumors. This advanced test enables comprehensive genomic profiling, providing critical, real-time insights for targeted treatment selection, therapy monitoring, and the early detection of resistance.

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Key Liquid Biopsy NGS Assays

Cancer Type / Panel Genomic Targets & Clinical Details
Lung Cancer Comprehensive genomic profiling of genes highly associated with lung cancer, including but not limited to EGFR, ALK, ROS1, RET, MET, BRAF, KRAS, ERBB2, and PIK3CA.
Breast & Ovarian Cancer Detection of critical mutations in primary susceptibility and target genes such as BRCA1, BRCA2, PIK3CA, ESR1, and ERBB2.
Colorectal Cancer Focused analysis of key driver mutations including KRAS, NRAS, BRAF, PIK3CA, APC, and TP53.
Prostate Cancer Evaluation of Homologous Recombination Repair (HRR) genes (e.g., BRCA1, BRCA2, ATM) and Androgen Receptor (AR) alterations.
Pan-Cancer Profiling Extensive genomic profiling covering hundreds of cancer-associated genes. Includes assessment of Tumor Mutational Burden (TMB) and Microsatellite Instability (MSI) to guide immunotherapy.

Clinical Applications

  • Initial Profiling: Identifying actionable mutations when a traditional tissue biopsy is unfeasible, medically risky, or yields insufficient material.
  • Treatment Selection: Directly guiding the choice of targeted therapies and immunotherapies based on the tumor’s unique genomic signature.
  • Therapy Monitoring: Tracking dynamic changes in ctDNA levels over time to continuously assess treatment efficacy without repeated surgeries.
  • MRD Detection: Detecting Minimal Residual Disease (MRD) post-surgery or curative treatment to predict relapse significantly earlier than standard imaging.
  • Acquired Resistance: Proactively identifying emergent mutations that cause treatment resistance, allowing for timely therapy adjustments.

Assay Specifications

Methodology: Next-Generation Sequencing (NGS).
Sample Requirements: 10-20 ml of peripheral blood collected in specialized cfDNA preservation tubes (e.g., Streck Cell-Free DNA BCT).
Turnaround Time (TAT): 14 to 21 working days.
Required Forms: Completely filled test request form, detailed clinical history, and previous pathology/histopathology reports.

Key Advantages of Liquid Biopsy

Non-Invasive & Safe

Eliminates the surgical risks, pain, and extensive recovery time associated with traditional tissue biopsies, utilizing only a routine blood draw.

Captures Tumor Heterogeneity

Unlike a localized tissue biopsy, liquid biopsy captures DNA shed from multiple primary and metastatic tumor sites for a complete genomic picture.

Real-Time Monitoring

Allows for safe, serial testing over time to continuously track tumor dynamics, treatment response, and disease progression.

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