Test Catalog

Test Id : EGFRT

EGFR Gene, Mutation Analysis, 29 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-tyrosine kinase inhibitor 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) Analysis

NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test

EGFR Gene, Mutation Analysis, Tumor

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

Non-small cell lung cancer

NSCLC

T790M

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

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Pathology report must accompany specimen in order for testing to be performed.

 

Preferred:

Specimen Type: Tissue

Container/Tube: Tissue block

Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block.

 

Acceptable:

Specimen Type: Tissue

Container/Tube: Slides

Specimen Volume: 1 stained and 5 unstained

Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 5 unstained, non-baked slides with 5-micron thick sections of the tumor tissue.

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

Formalin-fixed, paraffin-embedded (FFPE) tissue block (preferred) or 1 slide stained with hematoxylin and eosin and 5 unstained, nonbaked slides with 5-microns thick sections of the tumor tissue.

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

Specimens that have been decalcified (all methods) Specimens that have not been formalin-fixed, paraffin-embedded 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)
Frozen
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-tyrosine kinase inhibitor 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

Lung cancer is the leading cause of cancer-related deaths in the world. Non-small cell lung cancer (NSCLC) represents 70% to 85% of all lung cancer diagnoses. Small molecular agents that target the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) protein are approved for the treatment of locally advanced or metastatic NSCLC as a second- or third-line regimen. Subsequently, randomized trials have suggested that targeted agents alone or combined with chemotherapy may be beneficial in maintenance and first-line settings. Because the combination of targeted therapy and standard chemotherapy leads to an increase in toxicity and cost, strategies that help to identify the individuals most likely to benefit from targeted therapies are desirable.

 

EGFR is a growth factor receptor that 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 NSCLC by preventing adenosine 5'-triphosphate (ATP)-binding at the active site. Gefitinib and erlotinib have been approved by the FDA for use in treating patients with NSCLC who previously failed to respond to the traditional platinum-based doublet chemotherapy. These 2 drugs have also recently been shown to increase progression-free and overall survival in patients who receive EGFR-tyrosine kinase inhibitor therapy as a first-line therapy for the treatment of NSCLC.

 

Agents such as gefitinib and erlotinib, which prevent ATP binding to EGFR kinase, do not appear to have any meaningful inhibitor activity on tumors that demonstrate the presence of the specific drug-resistant EGFR mutation T790M. Therefore, current data suggest that the efficacy of EGFR-targeted therapies in NSCLC is confined to patients with tumors demonstrating the presence of EGFR- activating mutations such as L858R, L861Q, G719A/S/C, S768I or small deletions within exon 19 and the absence of the drug-resistant mutation T790M. 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

An interpretive report will be provided.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

A negative (wild type) 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 (wild type) result does not rule out the presence of other activating mutations in the epidermal growth factor receptor (EGFR) gene.

 

The predictive value of epidermal growth factor receptor (EGFR) testing applies to EGFR--tyrosine kinase inhibitors (TKI) therapies, not to other therapeutic agents.

 

Not all patients that have activating EGFR mutations detected by this assay respond to EGFR-TKI therapies.

 

Rare 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

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 2011;131(5):E822-829

3. Mok TS: Personalized medicine in lung cancer: what we need to know. Nat Rev Clin Oncol 2011;8:661-668

Method Description
Describes how the test is performed and provides a method-specific reference

A PCR-based assay employing Scorpions real-time PCR and allele-specific PCR technologies is used to test for 29 mutations within exons 18 through 21 of the EGFR gene:

G719A

2239_2256del8

G719S

2239_2248TTAAGAGAAG->C

G719C

2239_2258->CA

2235_2249del15

2240_2251del12

2235_2252->AAT

2240_2257del8

2236_2253del18

2240_2254del15

2237_2251del15

2239_2251->C

2237_2254del18

2307_2308ins9

2237_2255->T

2310_2311insGGT

2236_2250del15,

2319_2320insCAC

2238_2255del18,

S768I

2238_2248->GC

T790M

2238_2252->GCA

L858R

2239_2247del9

L861Q

2239_2253del15

 

 

A pathology review and macro dissection to enrich for tumor cells is performed prior to DNA extraction.(Package insert: EGFR RGQ PCR Kit, Qiagen, Valencia, CA, 2011)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

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.

5 to 7 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

Unused portions of blocks will be returned. Unused slides are stored indefinitely.

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

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 Regional Manager. 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 has been modified from the manufacturer's instructions. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test 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.

EGFR Gene, Mutation Analysis, 29 Mutation Panel, Tumor 

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)

 

Slide Review

88381-Microdissection, manual

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports