Prima

Liquid Biopsy

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Prima

Liquid Biopsy

Introduction

Dying cancer cells release their mutated DNA into the bloodstream, enabling determination of mutation type and relative tumour volume. By capturing and sequencing these tumour derived cell free DNA, tumour genomics can be reconstructed without needing to perform the biopsy of the tumour, and hence this is also called as Liquid biopsy. This test is designed to sequence regions of oncogenes: EGFR, KRAS, NRAS and BRAF, which are somatically altered recurrent mutations in solid tumours with a role in targeted therapy.

Advantages of Liquid Biopsy over Tissue biopsy

  • Sample quantity is not limited in contrary to most biopsies (eg; Lung)
  • Sample frequency is not limited
  • Simple and safe venepuncture
  • Doesn’t need a medical professional
  • Doesn’t require any urgent shipping/cold-chain support
  • Liquid Biopsy procedure doesn’t cost as much as tissue biopsy

When is Liquid Biopsy Advised?

Liquid biopsy facilitates detection of clinically relevant tumour mutations from blood sample, when there is difficulty in obtaining biopsy from cancer patients for practical and clinical reasons. It is also applicable in situations where:

  • The biopsy material is degraded or damaged or improperly/poorly fixed
  • The tumour content is insufficient in the existing biopsy material
  • No available Tumour Tissue Biopsy
  • It has been proven to be a useful molecular tool for treatment monitoring and relapse in cancer patients
  • Secondary acquired resistance mutations during the course of treatment (example: T790M mutation in NSCLC)

Advantages of NGS based Liquid biopsy over other technologies:

  • High Sensitivity and ability to detect low frequency mutation
  • Unlike other techniques such as Real-Time PCR or Digital PCR where only specific known mutation is screened in individual genes, NGS has the advantage of multi-gene profiling in a single assay providing information on the exon covering the HOTSPOT mutation, with minimal amount of DNA without compromising on the sensitivity and specificity, and can detect unknown mutations too
  • Massively Parallel Sequencing, which provide data with high confidence and greater accuracy
  • Decreases time-to-answer. (Reduced Turn Around Time)
  • Minimizes issues with limited material for sequential testing
  • Ability to provide exact mutation, especially the insertion and deletion cases

Validation details

This test has been developed in-house by MedGenome Labs and its Analytical and Clinical performance characteristics have been extensively validated and verified in blood / matched tumour samples from approximately 200 cancer patients.

Requirements

2x10ml of peripheral blood collected in Streck Tubes

Turnaround time

12 working days

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