EGFR Mutation Detection Test (EXONS 18, 19, 20, 21)

EGFR Mutation test is done to detect mutations in EGFR gene in exons 18 to 21. Patients with mutations respond well to TKI treatment

• To detect mutations in the EGFR gene in exons 18 to 21
• Patients with mutations respond well to TKI treatment
• Helps in formulating the proper treatment plan
• The test is done during or after the diagnosis of NSCLC to find out
  1. Whether you have a disease or condition
  2. How aggressive is your disease or condition is
  3. How well you’ll respond to specific treatments

EGFR Mutation test detects mutations in EGFR gene with real time PCR

Sample is provided by the recommending doctor. Tumor containing FFPE block (>10% of tumor). Tumor containing tissue fixed in 10% neutral buffered formalin with duration of 6 to 72 hours

The sample for testing is provided by the doctor. The samples may consist of:

• Tumour containing > 10% of FFPE block.

Tumours containing the tissue fixed with 10% neutral buffered formalin within a duration of about 6 to 72 hours

Patients with EGFR mutation respond well to TKI treatment. KRAS mutations are associated with intrinsic
Tyrosine Kinase (TKI) resistance. Hence, KRAS codon 12/13 mutation testing would be useful for selection of the patients for TKI therapy.
Patients who are negative for EGFR mutations can additionally be tested for ALK rearrangement and the ALK positive NSCLC cases are likely to benefit from FDA approved crizotinib (XALKORI) therapy
Patients with PD-L1 expression predicts potential response to immunotherapy such as nivolumab and pembrolizumab

Those diagnosed with NSCLC are recommended to get the EGFR Mutation Detection Test done to decide on the type of treatment to be pursued.
 

The EGFR Mutation Detection Test can be done when NSCLC is detected in the lungs of the patient. It can be used to determine the mode of treatment depending on the types of gene mutations.
 

No particular preparation is required for the EGFR mutation detection test. The doctor must be informed of any underlying medical conditions, medicines taken and any allergies one may be having.
 

It is suggested to get this test done if the following symptoms of NSCLC are present in a person:

• Frequent cough
• Shortness of breath
• Blood in cough
• Pain in the back
• Pain in the shoulders
• Chest pain
• Repeated respiratory infections
• Fatigue
• Depression
• Blood clots
• Sudden weight loss
• Face and neck swelling
• Swollen lymph nodes in the neck and upper chest
• Clubbing
• Reduced energy
• Jaundice
• Change in balance or strength
   

Most of those afflicted with NSCLC get diagnosed at a very late stage of cancer. It is because many of the symptoms of NSCLC are mistaken for the effects of those who smoke in the long term. Owing to this, 80% of those who have NSCLC have already progressed to the later stages making it much more difficult to treat. When present in the lungs, it can cause many complications such as shortness of breath, and a bluish tint to the skin and lips known as cyanosis. NSCLC is the most common type of lung cancer. Like most cancers, it is caused by genetic mutations that cause the cells in the lung to multiply rapidly leading to the development of tumours in the lungs.

• EGFR Mutation Test

The EGFR mutation test is a diagnostic tool that identifies specific genetic mutations in the EGFR gene, particularly in exons 18, 19, 20, and 21. It is primarily used to detect these mutations in patients with Non-Small Cell Lung Cancer (NSCLC).

Yes, home sample collection is available for the EGFR mutation test through labs like Metropolis Healthcare. While the test typically requires a tissue sample from a biopsy or surgical procedure, these labs offer home collection services for blood samples, ensuring proper handling and transportation for accurate testing.

The EGFR Mutation Test doesn't have a specific "normal" range, as it detects mutations in the EGFR gene rather than measuring levels. A positive result indicates the presence of mutations, which may guide treatment decisions for conditions like non-small cell lung cancer.

The EGFR mutation test is used to detect mutations in the EGFR gene to guide treatment decisions, particularly to determine if a patient with NSCLC is likely to respond to Tyrosine Kinase Inhibitors (TKIs).

The EGFR mutation analysis is typically recommended once during or after the diagnosis of NSCLC to guide the initial treatment plan. Re-testing may be necessary if there is a recurrence or progression of the disease.

The EGFR mutation test should be done when NSCLC is detected or suspected, and ideally before starting treatment to ensure the most effective therapeutic strategy is chosen.

No, fasting is not required for the EGFR mutation test.

Patients should inform their doctor about any underlying medical conditions, medications, or allergies before undergoing EGFR mutation analysis, but no specific precautions or preparations are required beyond this.

The parameters included in the EGFR mutation test are mutations in exons 18, 19, 20, and 21 of the EGFR gene, such as exon 19 deletions, exon 21 point mutations (e.g., L858R), exon 18 mutations (e.g., G719X), and exon 20 mutations (e.g., T790M).

The EGFR mutation test should be done during or after the diagnosis of NSCLC to guide the treatment plan and determine the likelihood of response to TKIs.

The EGFR mutation analysis typically takes a few hours to complete, including DNA isolation, PCR setup, and amplification.

Reports for the EGFR mutation test can usually be obtained within 24 to 48 hours, depending on the day/date when the sample was collected and processed.