Epidermal growth factor receptor (EGFR) mutation analysis is offered by Opaldia and detects EGFR gene mutations in tumour specimens of patients with non-small cell lung cancer (NSCLC).

EGFR, when activated, plays a role in cellular tumour growth and proliferation, and is the target of tyrosine kinase inhibitors (TKI). Clinical studies have found that up to 20% of NSCLC tumours harbour the EGFR mutation, and that approximately 85% of patients with these mutations respond to TKI treatment.

The molecular diagnostic procedure incorporates PCR amplification and bidirectional gene sequencing of exons 18 through 21 of the tyrosine kinase domain of the EGFR gene. Mutation-positive specimens are confirmed by repeat sequencing of the tumour sample. Germline mutation analysis is also performed on a separate DNA sample (peripheral blood or mouthwash) for mutation-positive tumours.