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Epidermal growth factor receptor (EGFR) mutation analysis detects EGFR gene mutations in tumor specimens of patients with non-small cell lung cancer (NSCLC). EGFR, when activated, plays a role in cellular tumor growth and proliferation and is the target of tyrosine kinase inhibitors (TKI). Clinical studies have found that up to 20% of NSCLC tumors harbor the EGFR mutation, and that ~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 tumor sample. Germline mutation analysis will need to be performed on a separate DNA sample (peripheral blood or mouthwash) if novel mutations are detected in the tumor.

Information Sheet - EGFR Mutation Analysis - NSCLC (PDF)

EGFR Mutation Analysis: 83890(1), 83892(4), 83898(4), 83901(2), 83904(8), 83907(1), 83912(1), 83900(1), 83909(8), 88381(1);

Germline Analysis: 83890(1), 83891(1), 83892(8), 83898(8), 83900(2), 83901(4), 83904(16), 83907(1), 83909(16), 88381(1)

Lung Tumor Specimens* (and Metastases):

1. Formalin-fixed, Paraffin-embedded Block - Formalin Fixation Only:
   • Tissue should be well-fixed in formalin.
   • Store specimen at room temperature (20-23.5°C).
2. Unstained Slides:
   • Send all slides within 5-7 days of cutting.
   • Minimum of 5 slides required.
   • Pre-cut slides from paraffin block in 7 micron sections. Use non-charged, non-coated slides.
   • Air dry. Do not oven dry.
   • Store specimen at room temperature (20-23.5°C).
3. Fresh Snap Frozen Biopsy:
   • Fresh tissue snap frozen at -20°C.
   • Store at -20°C.
   • Ship on minimum of 10 lbs. of dry ice.

*We will accept core needle biopsies, FNAs and pleural effusions. However, the smaller amount of tissue usually present in these specimens can lower the success rate of the assay.

Separate Sample for Germline Analysis (required if novel mutations are detected in tumor specimen):

1. Peripheral Blood:
   • 2.0 ml in EDTA (lavender-top) tube.
   • Refrigerate specimen. Use cold pack for transport. Be sure cold pack is not in direct contact with specimen during transport.
2. Mouthwash:
   • 10 ml of Scope® mouthwash that has been swished vigorously for at least 1 minute.
   • Collect in orange-top 50 ml polypropylene tube.
   • Please Note: Patient should not eat or drink anything for at least one hour prior to collection.

Turnaround Time:

10-14 days

Client Services: Oncology/Pathology   800-447-5816

Specimen Services/Pickup:  877-246-1226