Test Id : EGFRS
EGFR Gene, Targeted Mutation Analysis, 51 Mutation Panel, Tumor
Useful For
Suggests clinical disorders or settings where the test may be helpful
Identifying non-small cell lung cancers that may respond to epidermal growth factor receptor-targeted therapies
Additional Tests
Lists tests that are always performed, at an additional charge, with the initial tests.
| Test Id | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| SLIRV | Slide Review in MG | No, (Bill Only) | Yes |
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, slide review will always be performed at an additional charge.
Method Name
A short description of the method used to perform the test
Polymerase Chain Reaction (PCR)
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
EGFR
EGFR-TKI
EGFR-tyrosine kinase inhibitor
Epidermal growth factor receptor
Erlotinib
Gefitinib
Lung carcinoma
Non small cell lung cancer
Non-small cell lung cancer
NSCLC
T790M
Amivantamab-vmjw
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, slide review will always be performed at an additional charge.
Specimen Type
Describes the specimen type validated for testing
Varies
Necessary Information
Pathology report must accompany specimen for testing to be performed.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Preferred: Submit 3, if available, or 2 of the following specimens.
Acceptable: Submit at least one of the following specimens.
Specimen Type: Tissue block
Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block with acceptable amount of tumor tissue.
Specimen Type: Tissue slide
Source: FFPE tissue, cell block (prepared from fine-needle aspirate, or pleural fluid)
Slides: 1 Hematoxylin and eosin-stained and 5 unstained
Collection Instructions:
Submit the followings slides:
1 Slide stained with hematoxylin and eosin
AND
5 Unstained, nonbaked slides with 5-micron thick sections of the tumor tissue.
Specimen Type: Cytology slide (direct smears; smears stained with Pap stain are not acceptable)
Slides: 2 Slides
Collection Instructions: Submit 2 slides stained with Diff Quik and coverslipped with a total of 5000 nucleated cells (preferred) or at least 3000 nucleated cells (minimum).
Note: Glass coverslips are preferred; plastic coverslips are acceptable but will result in longer turnaround times.
Additional Information: Cytology slides will not be returned. An image of the slides will be stored per regulatory requirements.
Forms
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
Formalin-fixed, paraffin-embedded tissue block or Slides: see Specimen Required
Cytology smear stained with Diff Quik: >1000 cells
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
| Specimens that have been decalcified (all methods) | Reject |
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Ambient (preferred) | ||
| Refrigerated | |||
Useful For
Suggests clinical disorders or settings where the test may be helpful
Identifying non-small cell lung cancers that may respond to epidermal growth factor receptor-targeted therapies
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, slide review will always be performed at an additional charge.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Targeted cancer therapies are defined as antibody or small molecule drugs that block the growth and spread of cancer by interfering with specific cell molecules involved in tumor growth and progression. Multiple targeted therapies have been approved by the US Food and Drug Administration for treatment of specific cancers. Molecular genetic profiling is often needed to identify targets amenable to targeted therapies and to minimize treatment costs and therapy-associated risks.
Epidermal growth factor receptor (EGFR) protein is activated by the binding of specific ligands, resulting in activation of the RAS/MAPK pathway. Activation of this pathway induces a signaling cascade ultimately leading to cell proliferation. Dysregulation of the RAS/MAPK pathway is a key factor in tumor progression for many solid tumors. Targeted therapies directed to tumors harboring activating mutations within the EGFR tyrosine kinase domain (exons 18-21) have demonstrated some success in treating a subset of patients with non-small cell lung cancer.
As a result, the mutation status of EGFR can be a useful marker by which patients are selected for EGFR-targeted therapy.
Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation
Provides information to assist in interpretation of the test results
The interpretation of molecular biomarker analysis includes an overview of the results and the associated diagnostic, prognostic, and therapeutic implications.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
A negative (wildtype) result does not rule out the presence of a mutation that may be present but below the limits of detection for this assay (approximately 10%).
A negative (wildtype) result does not rule out the presence of other activating mutations in the EGFR gene.
Not all patients that have activating EGFR mutations detected by this assay respond to EGFR-targeted therapies.
Rare genetic alterations (ie, polymorphisms) exist that could lead to false-negative or false-positive results.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Sharma SV, Bell DW, Settleman J, Haber DA. Epidermal growth factor receptor mutations in lung cancer. Nat Rev Cancer. 2007;7(3):169-181. doi:10.1038/nrc2088
2. Gao G, Ren S, Li A, et al. Epidermal growth factor receptor-tyrosine kinase inhibitor therapy is effective as first- line treatment of advanced non-small-cell lung cancer with mutated EGFR: a meta-analysis from six phase III randomized controlled trials. Int J Cancer. 2012;131(5):E822-829. doi:10.1002/ijc.27396
3. Mok TS. Personalized medicine in lung cancer: what we need to know. Nat Rev Clin Oncol. 2011;8(11):661-668. doi:10.1038/nrclinonc.2011.126
4. Lee CS, Sharma S, Miao E, Mensah C, Sullivan K, Seetharamu N. A comprehensive review of contemporary literature for epidermal growth factor receptor tyrosine kinase inhibitors in non-small cell lung cancer and their toxicity. Lung Cancer (Auckl). 2020;11:73-103. doi:10.2147/LCTT.S258444
Method Description
Describes how the test is performed and provides a method-specific reference
All ordered specimens will undergo EGFR testing. The EGFR test is a qualitative polymerase chain reaction (PCR)-based assay employing fluorescently labeled probes that are used to detect exon 18 (G719A/C/S), exon 21 (L858R, L861Q), exon 20 (T790M, S768I) mutations, exon 19 deletions and exon 20 insertions of the EGFR gene.(Unpublished Mayo method)
| Exon | Mutation | Protein change | Nucleotide change | Genotype |
| 18 | G719A | p.Gly719Ala | c.2156G>C | G719A/C/S |
| G719C | p.Gly719Cys | c.2155G>T | ||
| G719C | p.Gly719Cys | c.2154_2155delinsTT | ||
| G719S | p.Gly719Ser | c.2155G>A | ||
| 19 | Deletion 9 | p.Leu747_Ala750delinsPro | c.2238_2248delinsGC | Exon 19 deletion |
| c.2239_2248delinsC | ||||
| p.Leu747_Ala750delinsSer | c.2240_2248del | |||
| p.Leu747_Glu749del | c.2239_2247del | |||
| Deletion 12 | p.Leu747_Thr751delinsPro | c.2239_2251delinsC | ||
| p.Leu747_Thr751delinsSer | c.2240_2251del | |||
| Deletion 15 | p.Glu746_Ala750del | c.2235_2249del | ||
| c.2236_2250del | ||||
| p.Leu747_Thr751del | c.2239_2253del | |||
| c.2240_2254del | ||||
| c.2238_2252del | ||||
| p.Glu746_Thr751delinsAla | c.2237_2251del | |||
| p.Glu746_Thr751delinsIle | c.2235_2252delinsAAT | |||
| p.Glu746_Thr751delinsVal | c.2237_2252delinsT | |||
| p.Lys745_Ala750delinsThr | c.2234_2248del | |||
| p.Glu746_Thr751delinsLeu | c.2236_2253delinsCTA | |||
| p.Glu746_Thr751delinsVal | c.2237_2253delinsTA | |||
| p.Glu746_Thr751delinsAla | c.2235_2251delinsAG | |||
| p.Glu746_Thr751delinsGln | c.2236_2253delinsCAA | |||
| p.Ile744_Ala750delinsValLys | c.2230_2249delinsGTCAA | |||
| Deletion 18 | p.Leu747_Pro753delinsSer | c.2240_2257del | ||
| p.Glu746_Ser752delinsVal | c.2237_2255delinsT | |||
| p.Leu747_Ser752del | c.2239_2256del | |||
| p.Glu746_Thr751del | c.2236_2253del | |||
| p.Leu747_Pro753delinsGln | c.2239_2258delinsCA | |||
| p.Glu746_Ser752delinsAla | c.2237_2254del | |||
| p.Glu746_Ser752delinsAsp | c.2238_2255del | |||
| p.Glu746_Pro753delinsValSer | c.2237_2257delinsTCT | |||
| p.Glu746_Ser752delinsIle | c.2236_2255delinsAT | |||
| c.2236_2256delinsATC | ||||
| p.Glu746_Ser752delinsVal | c.2237_2256delinsTT | |||
| c.2237_2256delinsTC | ||||
| c.2235_2255delinsGGT | ||||
| Deletion 21 | p.Leu747_Pro753del | c.2238_2258del | ||
| p.Glu746_Ser752del | c.2236_2256del | |||
| Deletion 24 | p.Ser752_Ile759del | c.2253_2276del | ||
| 20 | T790M | p.Thr790Met | c.2369C>T | T790M |
| S768I** | p.Ser768Ile | c.2303G>T | S768I | |
| InsG | p.Asp770_Asn771insGly | c.2310_2311insGGT | Exon 20 insertion | |
| InsASV(9) | p.Val769_Asp770insAlaSerVal | c.2307_2308insGCCAGCGTG | ||
| InsASV(11) | p.Val769_Asp770insAlaSerVal | c.2309_2310delinsCCAGCGTGGAT | ||
| InsSVD | p.Asp770_Asn771insSerValAsp | c.2311_2312insGCGTGGACA | ||
| InsH | p.His773_Val774insHis | c.2319_2320insCAC | ||
| 21 | L858R | p.Leu858Arg | c.2573T>G | L858R |
| c.2573_2574delinsGT | ||||
| c.2573_2574delinsGA | ||||
| L861Q | p.Leu861Gln | c.2582T>A | L861Q |
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Monday through Friday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.
CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
81235-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)
88381-Microdissection, manual
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| EGFRS | EGFR Gene, Mutation Analysis, Tumor | 21665-5 |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 616123 | Result Summary | 50397-9 |
| 616124 | Result | 21665-5 |
| 616125 | Interpretation | 69047-9 |
| 616126 | Specimen | 31208-2 |
| 616127 | Source | 31208-2 |
| 616128 | Tissue ID | 80398-1 |
| 616129 | Released By | 18771-6 |