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Test Code EGFRS EGFR Gene, Targeted Mutation Analysis, 51 Mutation Panel, Tumor


Necessary Information


Pathology report must accompany specimen for testing to be performed.



Specimen Required


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 (FFPE) 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.

Additional Information:

1. Hematoxylin and eosin-stained and unstained slides will not be returned.

2. Broken or cracked unstained slides will be rejected. Stained slides that were broken and repaired (ie, double mounted) at the client site will not be rejected, as, in most cases, they can still be reviewed under the microscope. However, due to the double mounting, digital scanning cannot be performed.

 

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:

1. Cytology slides will not be returned. An image of the slides will be stored per regulatory requirements.
2. Stained slides that were broken and repaired (ie, double mounted) at the client site will not be rejected, as, in most cases, they can still be reviewed under the microscope. However, due to the double mounting, digital scanning cannot be performed.


Useful For

Identifying non-small cell lung cancers that may respond to epidermal growth factor receptor-targeted therapies

Additional Tests

Test ID Reporting Name Available Separately Always Performed
SLIRV Slide Review in MG No, (Bill Only) Yes

Testing Algorithm

When this test is ordered, slide review will always be performed at an additional charge.

Reporting Name

EGFR Gene, Mutation Analysis, Tumor

Specimen Type

Varies

Specimen Minimum Volume

Formalin-fixed, paraffin-embedded tissue block or Slides: see Specimen Required
Cytology smear stained with Diff Quik: >1000 cells

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Refrigerated 

Reject Due To

Broken or cracked unstained slides Reject
Broken or cracked stained slides that cannot be repaired Reject

Reference Values

An interpretive report will be provided.

Method Description

All 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

Day(s) Performed

Monday through Friday

Report Available

4 to 7 days

Specimen Retention Time

Tissue blocks: Unused portions of blocks will be returned; Tissue slides: Hematoxylin and eosin-stained and unstained slides will not be returned. Unused slides are stored for at least 5 years.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

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 Code Information

Test ID Test Order Name Order LOINC Value
EGFRS EGFR Gene, Mutation Analysis, Tumor 21665-5

 

Result ID Test Result Name Result LOINC Value
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

Disease States

  • Non-small cell lung cancer

Forms

If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.