EGFR Mutation Test For Cancer Diagnosis

The EGFR mutation test is a medical exam that checks for specific genetic changes in the EGFR gene. It helps determine treatment options for certain lung and other cancers.

EGFR Mutation Test

Here are the basic details of the EGFR Mutation Test.

Also Known As	EGFR Test
Type	Genetic test
Purpose	Identify EGFR mutations in cancers
Sample Type	Tissue or blood
Preparation	None or as directed
Fasting	Typically not required
Gender	All
Age Group	All
Normal Value	Negative (Not Detected)
Reporting Time	Few days to weeks
Cost	5000-8000 INR*

*EGFR Mutation Test Price range may vary as per location, lab type, and procedure of lab test.

EGFR Mutation Test Means

EGFR Mutation Test Identifies mutations in the Epidermal Growth Factor Receptor (EGFR) gene.

Vital for personalized cancer treatment, especially in lung cancer.
Determines eligibility for targeted therapies.
Guides treatment decisions and predicts treatment effectiveness.
Integral in oncology for non-small cell lung cancer (NSCLC).
Improves patient outcomes by tailoring treatment.

EGFR Mutation Test Purpose

The purpose of the EGFR Mutation Test is to:

Personalize cancer treatment, especially for lung cancer.
Identify mutations in the EGFR gene.
Determine eligibility for targeted therapies.
Guide treatment decisions and predict effectiveness.
Improve outcomes in non-small cell lung cancer.

EGFR Mutation Test- Price, Normal Range, Result, Purpose, Procedure Meaning and Interpretation - Drlogy Test

EGFR Mutation Test Preparation

Here is the basic preparation for the EGFR Mutation Test.

Before Test

Consult with your oncologist or healthcare provider to discuss the test and its purpose.
Share your complete medical history, including previous cancer treatments, if any.
Discuss any medications, supplements, or medical conditions that might affect the test results.
Arrange a suitable date and time for the test based on your healthcare provider's recommendations.
Be prepared for a blood sample, biopsy, or other specimen collection as specified.

During Test

Arrive at the clinic or hospital at the scheduled time.
Wear comfortable clothing that allows easy access to the site of specimen collection.
Be cooperative and follow the instructions provided by the medical staff.
Inform the staff of any discomfort or unusual symptoms during the procedure.
The test may involve a blood draw, tissue biopsy, or other sample collection, depending on the specific method chosen.

After Test

Remain at the clinic or hospital for any recommended observation or recovery period.
Resume your normal activities unless instructed otherwise by your healthcare provider.
Schedule a follow-up appointment with your oncologist or healthcare provider to review the test results.
Discuss the implications of the test results for your cancer diagnosis and treatment plan.
Collaborate with your healthcare team to make informed decisions regarding your cancer treatment based on the EGFR mutation status.

EGFR Mutation Test Procedure

Here is the basic EGFR Mutation Test Procedure.

Tissue or blood sample is collected.
The sample is analyzed for specific EGFR gene mutations.
Polymerase chain reaction (PCR) or sequencing techniques are commonly used.
Results guide treatment decisions for non-small cell lung cancer.
Test may take several days to complete.

EGFR Mutation Test Result

Here is the basic reading of the EGFR Mutation Test results.

Mutation Status: Determine if the EGFR gene contains any mutations. Positive results mean mutations are present.Negative results means not detected.
Specific Mutations: Identify the specific EGFR mutations mentioned in the report. Some mutations may be more responsive to targeted therapies.
Treatment Implications: Note any treatment recommendations or implications based on the mutation status. This can guide treatment decisions.
Follow-Up: Consult with your oncologist or healthcare provider to understand the results and discuss the next steps in your cancer treatment plan.

EGFR Mutation Test Normal Result

Here is the normal range of the EGFR Mutation Test

Test Result	Interpretation
Positive (Detected)	One or more EGFR mutations are present, and the specific mutations are identified. These mutations may guide treatment decisions, especially if they are sensitizing EGFR mutations.
Negative (Not Detected)	No EGFR mutations are identified in the sample. This indicates that the tested individual's lung cancer does not have the specific EGFR mutations associated with responsiveness to EGFR-targeted therapies.

EGFR Mutation Test Interpretation

Here is the Interpretation of the EGFR Mutation Test.

Test Result	Interpretation
Detected	One or more EGFR mutations are present, and the specific mutations are identified. These mutations may guide treatment decisions, especially if they are sensitizing EGFR mutations.
Not Detected	No EGFR mutations are identified in the sample. This indicates that the tested individual's lung cancer does not have the specific EGFR mutations associated with responsiveness to EGFR-targeted therapies.

EGFR Mutation Test Positive Result

Here are potential causes for positive EGFR mutation test result:

Potential Cause	Explanation
EGFR Gene Mutation	Presence of a mutation in the EGFR gene, which is associated with certain types of cancer, especially non-small cell lung cancer.
Non-Small Cell Lung Cancer	EGFR mutations are commonly found in patients with non-small cell lung cancer (NSCLC). A positive test result may indicate the presence of NSCLC.
Sensitizing EGFR Mutation	Specifically, the presence of sensitizing EGFR mutations like exon 19 deletions or L858R mutation, which are predictive of targeted therapy response.
Previous EGFR-Targeted Therapy	Prior treatment with EGFR tyrosine kinase inhibitors (TKIs) could lead to the detection of resistant mutations or other variations in the EGFR gene.
False Positive Result	Rarely, false-positive results can occur due to technical errors in the testing process or contamination of samples.

EGFR Mutation Test Negative Result

Here are the potential causes for negative EGFR mutation test results:

Potential Cause	Explanation
Absence of EGFR Mutation	The most common reason for a negative result is the absence of EGFR gene mutations, which is expected in many cases of lung cancer.
Different Mutation Type	EGFR mutation testing may not detect rare or less common mutation types that are not included in the test panel.
Other Types of Lung Cancer	Lung cancer can be caused by various mutations in different genes (e.g., KRAS, ALK, ROS1). A negative result may suggest the presence of these alternative mutations.
Tissue Sample Quality	Inadequate or poorly preserved tissue samples may yield negative results due to the inability to extract DNA for testing.
False Negative Result	Although rare, false-negative results can occur due to technical limitations or the presence of a low-level EGFR mutation that falls below the test's detection threshold.

Specimen Requirements For EGFR Mutation Test

Here are the specimen requirements for the EGFR Mutation Test.

Specimen Volume	At least 10 mL of formalin-fixed paraffin-embedded tissue or 5 mL of blood (plasma or serum).
Container	Tissue samples: Formalin-fixed, paraffin-embedded blocks. Blood samples: Sterile, screw-capped tubes.
Collection	Tissue: Collected during biopsy or surgical resection. Blood: Drawn by venipuncture following proper phlebotomy procedures.
Storage	Tissue: Store at room temperature. Blood: Store at 2-8°C (refrigerated) for a limited time, or -20°C for long-term storage.
Sample Stability	Tissue: Stable for several years when properly stored. Blood: Stable for several days when refrigerated, or several months when frozen.
Causes for Rejection	Tissue: Inadequate sample size, improper fixation, extensive autolysis. Blood: Hemolysis, improper handling, inadequate volume, contamination.

EGFR Mutation Test is Safe?

The EGFR mutation test is safe, typically involving a blood draw or tissue biopsy.

The risks associated with the test are generally minimal and related to the collection procedure.
The benefits of the test, which guide personalized cancer treatment, outweigh the potential risks.

When Do You Get EGFR Mutation Test Results?

EGFR mutation test results may take few days to a couple of weeks to be processed and reported.
Patients receive their results during a follow-up appointment with their oncologist or healthcare provider.

EGFR Mutation Test Limitation

Here is the basic limitation of EGFR Mutation Test.

Test results may not cover all potential EGFR mutations.
False negatives are possible due to tumor heterogeneity.
Limited by the availability and quality of the tissue sample.
Mutations may change over time, requiring retesting.
Test results may not predict treatment response in all cases.

EGFR Mutation Test Risk Factors

Here are some of the risk factors of the EGFR Mutation Test.

Minimal risk associated with sample collection (blood or tissue biopsy).
Potential discomfort or complications related to the biopsy procedure.
Risk of false negatives due to tumor heterogeneity.
Limited sensitivity for certain EGFR mutations.
Potential risks associated with invasive biopsy procedures.

Doctor Recommendations After EGFR Mutation Test Result

Here are the Doctor's recommendations or consult a specialist after the EGFR Mutation Test.

Test Result	Doctor to Consult	Reason
Positive	Oncologist	Discuss cancer treatment options.
Negative	Oncologist	Assess further cancer evaluations.

EGFR Mutation Test Price

Here are the estimated EGFR Mutation Test Prices in India with different top cities:

City	Price Range (INR)*
Mumbai	5000-8000
New Delhi	5500-8000
Bangalore	5000-8000
Hyderabad	5500-8000
Kolkata	5000-8000
Pune	5500-8000
Lucknow	5000-8000
Noida	5500-8000
Surat	5500-8000
Gurugram	5000-8000
Patna	5500-8000
Chennai	5000-8000
Jaipur	5500-8000
Ahmedabad	5000-8000

*EGFR Mutation Test Prices are approximate and vary depending on a specific laboratory or healthcare facility.

Summary

Overall, EGFR Mutation Test are critical for customizing treatment strategies for non-small cell lung cancer patients, improving outcomes, and minimizing unnecessary interventions. Also check Drlogy Test for detailed information about all medical tests for patients, doctors, scholers and medical students.

Reference

Epidermal growth factor receptor (EGFR) - Wikipedia [1].
EGFR mutation testing and treatment decisions in patients progressing on first- or second-generation epidermal growth factor receptor tyrosine kinase inhibitors - NIH [2].

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EGFR Mutation Test FAQ

What is an EGFR mutation test for cancer?

An EGFR mutation test is a diagnostic tool used to identify mutations in the Epidermal Growth Factor Receptor (EGFR) gene. These mutations are common in certain types of cancer, such as lung cancer. By detecting EGFR mutations, doctors can tailor treatment plans to target specific genetic abnormalities in cancer cells, leading to more effective therapies and better outcomes for patients.

Who should consider an EGFR mutation test?

Individuals diagnosed with non-small cell lung cancer (NSCLC) are prime candidates for EGFR mutation testing, as these mutations are prevalent in this cancer type. Additionally, it may be recommended for patients with other types of cancer or specific clinical indications. Your oncologist will assess your case and suggest testing if necessary.

How accurate is the EGFR mutation test?

The accuracy of EGFR mutation tests is high, with a sensitivity and specificity that exceed 90%. However, the accuracy may vary depending on the specific testing method used. The results are crucial for determining the most appropriate treatment, so laboratories adhere to stringent quality control measures.

How long is the EGFR mutation testing process?

The entire EGFR mutation testing process, including sample collection, analysis, and result reporting, may take a few weeks. The exact duration can vary depending on factors like the type of test, the laboratory's workload, and the logistics of sample transportation. It's essential to discuss timing expectations with your healthcare provider.