Bidirectional sequence analysis of EGFR exon 20 in peripheral blood for detection of T790M germline mutation. Note: Patient and physician or genetic counselor signatures on the NeoGenomics Consent for Hereditary Cancer Genetic Testing form are required. Testing will be put on hold until signatures are received.
Germline T790M mutations in the EGFR gene are estimated to be present in 1% of all patients with non-small cell lung carcinoma (NSCLC) and in approximately 50% of patients whose lung tumors have a baseline T790M mutation prior to anti-EGFR TKI therapy. As with somatic mutations, germline T790M variants are associated with resistance to such therapy except for third-generation EGFR inhibitors. Mutation detection can aid alternate therapy planning. Dominant inheritance of lung cancer predisposition has been described in some families with this mutation; genetic counseling is strongly recommended.
- Peripheral blood: 5 mL in EDTA tube.
Use cold pack for transport. Make sure cold pack is not in direct contact with specimen.