Epidermal Growth Factor Receptor (EGFR) Gene Mutation Analysis, Non−Small-cell Lung Cancer (Single-base Extension)

CPT: 81235; 88381
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Test Details

Synonyms

  • Erlotinib Responsiveness in NSCLC, EGFR Mutation Analysis
  • Gefitinib Responsiveness in NSCLC, EGFR Mutation Analysis
  • IRESSA® Responsiveness in NSCLC, EGFR Mutation Analysis
  • Non−Small-cell Lung Cancer, EGFR Mutation
  • Tarceva® Responsiveness in NSCLC, EGFR Mutation Analysis

Use

Non−small-cell lung cancer (NSCLC) is the leading cause of death from cancer in both men and women in the US. A subgroup of NSCLC patients has shown clinical responsiveness to the EGFR inhibitors gefitinib (Iressa®) and erlotinib (Tarceva®). In the majority of patients with highly responsive tumors, the tumor contains somatic mutations within the EGFR tyrosine kinase domain. The presence of a somatic EGFR mutation is significantly associated with deferential responsiveness or resistance to gefitinib and erlotinib and is strongly predictive of prolonged survival in NSCLC patients.

Limitations

The EGFR test is designed to detect mutations in exon 18, 19, 20, and 21 of the EGFR gene. These mutations account for >99% of all reported EGFR mutations in NSCLC patients. Samples with results reported as "no mutation detected" may harbor EGFR mutations that are not detected by the assay.

Detection of mutation is dependent on sample integrity and the amount of amplifiable DNA present in the specimen. The methods used in this assay are highly selective and, depending on the total amount of DNA present, can detect approximately 2% to 20% of mutant in a background of wild-type genomic DNA.

This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary.

Methodology

SNaPshot Multiplex PCR (primer extension-based method)

Specimen Requirements

Specimen

Formalin-fixed, paraffin-embedded (FFPE) tissue block or slides from NSCLC or extracted DNA

Volume

Five unstained slides and one matching H&E-stained slide at 10 μM or formalin-fixed, paraffin-embedded tissue block or 25 μL DNA at 10 ng/μL

Minimum Volume

Two unstained slides and one matching H&E-stained slide at 10 μM (Note: Samples with >4 mm² and ≥50% tumor content are preferred.)

Container

Slides or blocks

Storage Instructions

Submit blocks/slides at room temperature. Freeze DNA.

Causes for Rejection

Tumor block containing insufficient tumor; tissue or tumor fixed in a heavy metal fixative; broken or stained slides

Clinical Information

Special Instructions

Please provide a copy of the pathology report. Please direct any questions regarding this test to customer service at 800-345-4363. A subsequent blood sample may be requested in order to confirm the somatic origin of an identified mutation.

References

ABI PRISM SNaPshot MultiPlex Kit Protocol for Research Use Only, P/N 4323357 Rev B.
Bell DW, Gore I, Okimoto RA, et al. Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR. Nat Genet. 2005 Dec; 37(12):1315-1316.
Han S-W, Kim T-Y, Hwang PG, et al. Predictive and prognostic impact of epidermal growth factor receptor mutation in non-small-cell lung cancer patients treated with gefitinib. J Clin Oncol. 2005 Apr 10; 23(11):2493-2501.
Jänne PA, Engelman JA, Johnson BE.. Epidermal growth factor receptor mutations in non−small-cell lung cancer: Implications for treatment and tumor biology. J Clin Oncol. 2005 May 10; 23(14):3227-3234.
Lynch TJ, Bell DW, Sordella R, et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non−small cell lung cancer to gefitinib. N Engl J Med. 2004 May 20; 350(21):2129-2139.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
489360 EGFR Mutation Analysis, NSCLC 489361 EGFR Result: 21665-5
489360 EGFR Mutation Analysis, NSCLC 489365 Interpretation: 50398-7
489360 EGFR Mutation Analysis, NSCLC 489362 Nucleotide change: 48004-6
489360 EGFR Mutation Analysis, NSCLC 489363 Amino acid change: 48005-3
489360 EGFR Mutation Analysis, NSCLC 489437 Background: 21666-3
489360 EGFR Mutation Analysis, NSCLC 489366 Director Review: 72486-4
489360 EGFR Mutation Analysis, NSCLC 489364 Block Number: 57723-9
489360 EGFR Mutation Analysis, NSCLC 480903 Microdissection Performed 8100-0
489360 EGFR Mutation Analysis, NSCLC 481184 Referring Physician 18781-5
489360 EGFR Mutation Analysis, NSCLC 481185 Treating Physician 18781-5
489360 EGFR Mutation Analysis, NSCLC 481186 Body Site 39111-0
489360 EGFR Mutation Analysis, NSCLC 481187 Client Specimen ID N/A
489360 EGFR Mutation Analysis, NSCLC 481188 Specimens Received 31208-2
489360 EGFR Mutation Analysis, NSCLC 481189 Clinical Data 55752-0
489360 EGFR Mutation Analysis, NSCLC 481191 Interpretation 62365-2
489360 EGFR Mutation Analysis, NSCLC 481192 Analytical Results 21665-5
489360 EGFR Mutation Analysis, NSCLC 481193 Comments 77202-0
489360 EGFR Mutation Analysis, NSCLC 481464 Methodology 49549-9
489360 EGFR Mutation Analysis, NSCLC 481465 References: 75608-0
489360 EGFR Mutation Analysis, NSCLC 481194 Signed By 19139-5
489360 EGFR Mutation Analysis, NSCLC 481195 Disclaimers N/A
489360 EGFR Mutation Analysis, NSCLC 481196 PDF 51969-4

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