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Official Description

EGFR (epidermal growth factor receptor) (eg, non-small cell lung cancer) gene analysis, common variants (eg, exon 19 LREA deletion, L858R, T790M, G719A, G719S, L861Q)

© Copyright 2025 American Medical Association. All rights reserved.

Common Language Description

Molecular genetic testing is a critical procedure used to identify specific mutations in the epidermal growth factor receptor (EGFR) gene, particularly in the context of non-small cell lung cancer (NSCLC). NSCLC is a type of lung cancer that is biologically aggressive and represents 85-90% of all lung cancer cases. The EGFR gene encodes a transmembrane glycoprotein that plays a significant role in cell signaling. When epidermal growth factor binds to these receptors, it triggers a transformation from an inactive monomeric form to an active homodimer form, leading to cellular proliferation and survival. Mutations in the EGFR gene can lead to an overexpression of the receptor and uncontrolled cell growth, which is a hallmark of cancer. Most of the mutations associated with NSCLC occur within four specific exons (18-21) of the EGFR gene. The most prevalent mutation is the exon 19 LREA deletion, which accounts for approximately 47% of cases. Another common mutation is L858R, which is a combination of an exon 19 deletion and a point mutation at exon 21 that substitutes leucine for arginine, representing about 34% of mutations. Additionally, the T790M mutation, which involves a substitution of threonine for methionine at exon 20, is less common but is associated with a poor response to chemotherapy. Other mutations, such as G719A, G719S, and G719C, occur in the kinase domain on exon 18 and account for about 3% of cases. Lastly, the L861Q mutation, where leucine is replaced by glutamine at position 861 on exon 21, is identified in approximately 2% of NSCLC cases. Understanding these mutations is essential for guiding treatment decisions and improving patient outcomes in those diagnosed with NSCLC.

© Copyright 2025 Coding Ahead. All rights reserved.

1. Indications

The EGFR gene analysis is indicated for patients diagnosed with non-small cell lung cancer (NSCLC) to identify specific mutations that may influence treatment options and prognostic outcomes. The following conditions warrant this genetic testing:

  • Diagnosis of NSCLC Patients with confirmed non-small cell lung cancer are candidates for EGFR gene analysis to determine the presence of mutations that may affect treatment response.
  • Assessment of Treatment Options The presence of specific EGFR mutations can guide oncologists in selecting targeted therapies, particularly tyrosine kinase inhibitors, which are more effective in patients with certain mutations.
  • Monitoring Treatment Response Genetic testing may be utilized to monitor the effectiveness of ongoing treatment and to identify potential resistance mutations that could arise during therapy.

2. Procedure

The procedure for conducting the EGFR gene analysis involves several key steps to ensure accurate identification of mutations. The following procedural steps are typically followed:

  • Step 1: Sample Collection A sample of tumor tissue or a blood specimen is collected from the patient. This sample serves as the source of DNA for the genetic analysis. Proper handling and storage of the specimen are crucial to maintain the integrity of the genetic material.
  • Step 2: DNA Extraction The DNA is extracted from the collected sample using standardized laboratory techniques. This process isolates the genetic material necessary for subsequent analysis, ensuring that it is free from contaminants that could affect the results.
  • Step 3: Mutation Analysis The extracted DNA is subjected to molecular genetic testing methods, such as polymerase chain reaction (PCR) and sequencing, to identify specific mutations in the EGFR gene. This analysis focuses on common variants, including exon 19 LREA deletion, L858R, T790M, G719A, G719S, and L861Q.
  • Step 4: Result Interpretation Once the analysis is complete, the results are interpreted by a qualified laboratory professional. The presence or absence of specific mutations is documented, and the findings are communicated to the healthcare provider for clinical decision-making.

3. Post-Procedure

After the EGFR gene analysis is completed, the healthcare provider will review the results with the patient. If specific mutations are identified, this information can significantly influence treatment strategies, including the potential use of targeted therapies. Patients may require additional counseling to understand the implications of the test results, including the potential for personalized treatment options. Follow-up appointments may be scheduled to monitor the patient's response to therapy and to assess any changes in their condition. It is also essential to consider the psychological impact of genetic testing and provide appropriate support to patients and their families.

Short Descr EGFR GENE COM VARIANTS
Medium Descr EGFR GENE ANALYSIS COMMON VARIANTS
Long Descr EGFR (epidermal growth factor receptor) (eg, non-small cell lung cancer) gene analysis, common variants (eg, exon 19 LREA deletion, L858R, T790M, G719A, G719S, L861Q)
Status Code Statutory Exclusion (from MPFS, may be paid under other methodologies)
Global Days XXX - Global Concept Does Not Apply
PC/TC Indicator (26, TC) 9 - Not Applicable
Multiple Procedures (51) 9 - Concept does not apply.
Bilateral Surgery (50) 9 - Concept does not apply.
Physician Supervisions 09 - Concept does not apply.
Assistant Surgeon (80, 82) 9 - Concept does not apply.
Co-Surgeons (62) 9 - Concept does not apply.
Team Surgery (66) 9 - Concept does not apply.
Diagnostic Imaging Family 99 - Concept Does Not Apply
CLIA Waived (QW) No
APC Status Indicator Service Paid under Fee Schedule or Payment System other than OPPS
Type of Service (TOS) 5 - Diagnostic Laboratory
Berenson-Eggers TOS (BETOS) T1H - Lab tests - other (non-Medicare fee schedule)
MUE 1
CCS Clinical Classification 234 - Pathology
59 Distinct procedural service: under certain circumstances, it may be necessary to indicate that a procedure or service was distinct or independent from other non-e/m services performed on the same day. modifier 59 is used to identify procedures/services, other than e/m services, that are not normally reported together, but are appropriate under the circumstances. documentation must support a different session, different procedure or surgery, different site or organ system, separate incision/excision, separate lesion, or separate injury (or area of injury in extensive injuries) not ordinarily encountered or performed on the same day by the same individual. however, when another already established modifier is appropriate it should be used rather than modifier 59. only if no more descriptive modifier is available, and the use of modifier 59 best explains the circumstances, should modifier 59 be used. note: modifier 59 should not be appended to an e/m service. to report a separate and distinct e/m service with a non-e/m service performed on the same date, see modifier 25.
90 Reference (outside) laboratory: when laboratory procedures are performed by a party other than the treating or reporting physician or other qualified health care professional, the procedure may be identified by adding modifier 90 to the usual procedure number.
XU Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service
26 Professional component: certain procedures are a combination of a physician or other qualified health care professional component and a technical component. when the physician or other qualified health care professional component is reported separately, the service may be identified by adding modifier 26 to the usual procedure number.
GA Waiver of liability statement issued as required by payer policy, individual case
GC This service has been performed in part by a resident under the direction of a teaching physician
GV Attending physician not employed or paid under arrangement by the patient's hospice provider
GW Service not related to the hospice patient's terminal condition
GZ Item or service expected to be denied as not reasonable and necessary
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2013-01-01 Added Added
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