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HelpOrder 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 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.
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.
Method Name
Polymerase Chain Reaction (PCR)
Reporting Name
EGFR Gene, Mutation Analysis, TumorSpecimen Type
VariesSpecimen 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
| Specimens that have been decalcified (all methods) | Reject |
Reference Values
An interpretive report will be provided.
Method Description
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 |
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|
c.2236_2256delinsATC |
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|
p.Glu746_Ser752delinsVal |
c.2237_2256delinsTT |
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|
c.2237_2256delinsTC |
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|
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 |
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|
InsSVD |
p.Asp770_Asn771insSerValAsp |
c.2311_2312insGCGTGGACA |
||
|
InsH |
p.His773_Val774insHis |
c.2319_2320insCAC |
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|
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
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
Forms
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen.