Test Catalog

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.

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

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 in order for testing to be performed.

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

Preferred:

Specimen Type: Tissue, smear stained with Diff Quik, fine needle aspirate (FNA), or pleural fluid in cell blocks

Container/Tube: Tissue block

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

 

Acceptable:

Specimen Type: Tissue, smear stained with Diff Quik, fine needle aspirate, or pleural fluid in cell block or cytology blood smear

Container/Tube: Slides

Specimen Volume: 1 Stained and 5 unstained

Collection Instructions:

1. For FFPE tissue, FNA or pleural fluid: Submit 1 slide stained with hematoxylin and eosin and 5 unstained, non-baked slides with 5-10-micron thick sections of the tumor tissue.

2. For cytology blood smear: Submit up to 2 slides stained with Diff Quik

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 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 FDA 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

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 (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 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 Mar;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 Sep 1;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 Aug 23;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 Oct 7;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.

 

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(2)

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

p.Leu747_Pro753del

c.2238_2258del

p.Glu746_Ser752del

c.2236_2256del

p.Ser752_Ile759del

c.2253_2276del

p.Thr790Met

c.2369C>T

p.Ser768Ile

c.2303G>T

p.Asp770_Asn771insGly

c.2310_2311insGGT

p.Val769_Asp770insAlaSerVal

c.2307_2308insGCCAGCGTG

p.Val769_Asp770insAlaSerVal

c.2309_2310delinsCCAGCGTGGAT

p.Asp770_Asn771insSerValAsp

c.2311_2312insGCGTGGACA

p.His773_Val774insHis

c.2319_2320insCAC

p.Leu858Arg

c.2573T>G

c.2573_2574delinsGT

c.2573_2574delinsGA

p.Leu861Gln

c.2582T>A

 

A pathology review and macro dissection to enrich for tumor cells is performed prior to slide scraping

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 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 was developed, and its performance characteristics 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.

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

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 | Create a 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