HomeLab TestsLung Cancer Genetic Tests
Back to Lab Tests
Lung Cancer Genetic Tests
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Lab Tests

Lung Cancer Genetic Tests

Genetic tests for lung cancer identify specific gene mutations in cancer cells to help predict disease progression and guide targeted therapy.

What are Lung Cancer Genetic Tests?

These tests look for changes in the genes of cancer cells, also known as gene variants or mutations. Identifying these changes helps providers match patients to targeted therapy—treatments that attack specific cancer cells while causing less harm to normal cells compared to traditional chemotherapy or radiation.

Genetic testing is most common for non-small cell lung cancer (NSCLC), as this type is more likely to have mutations that respond to targeted therapies.

Understanding Gene Changes

The gene changes found in lung cancer are typically not inherited; they develop after birth due to factors like tobacco smoke, radon gas, air pollution, or errors during cell division. These mutations cause cells to grow out of control, forming tumors.

Testing Procedures

The preferred sample for testing is tissue from a lung tumor, collected via a biopsy. Biopsy methods include:

  • Using a hollow needle inserted through the skin.
  • Bronchoscopy.
  • Surgical procedures involving an incision in the chest.

If tumor tissue cannot be collected, a liquid biopsy—a blood test that detects tumor DNA—may be used in certain cases, though it is generally less accurate than tissue testing.

Interpreting Results

Results help determine the best course of treatment:

  • If a mutation is found that responds to targeted therapy, that treatment may be initiated.
  • If no targetable mutation is found, other treatment options are explored.
  • Some results may indicate that a specific therapy will not work, helping to avoid ineffective treatments.

Genetic testing can take several days to a week or more to process.

Frequently Asked Questions

The primary targetable alterations include EGFR exon 19 deletions and L858R mutations, ALK rearrangements, ROS1 fusions, BRAF V600E, KRAS G12C, MET exon 14 skipping, RET fusions, and NTRK1/2/3 fusions. Testing panels are designed to detect these and often include emerging biomarkers such as HER2 insertions and PD‑L1 expression for immunotherapy decisions.
Most next‑generation sequencing panels require at least 10–20% tumor cellularity and a minimum of 5–10 ng of DNA, which can often be obtained from a core needle biopsy or a bronchoscopy brush sample. Pathology labs will assess adequacy before proceeding. If the sample is insufficient, a repeat biopsy or a liquid biopsy may be recommended.
negative liquid biopsy does not definitively exclude actionable mutations because circulating tumor DNA may be below the detection threshold, especially in early‑stage disease or low tumor burden. Tissue‑based testing remains the gold standard; if a tissue sample is available, it should be analyzed even after a negative liquid result.
Standard tissue‑based NGS panels typically return results within 7–14 days, while rapid panels can deliver findings in 3–5 days for urgent cases. If the clinical situation requires immediate therapy, oncologists may begin empiric chemotherapy or immunotherapy while awaiting results, but targeted agents are usually held until a specific mutation is confirmed.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab