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Order Code EGFRW EGFR Targeted Mutation Analysis with ALK Reflex, Tumor


Specimen Required


Pathology report must accompany specimen 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: 12 unstained, positively charged, unbaked slides or 2 hematoxylin and eosin-stained slides (will not be returned) and 10 unstained, positively charged, unbaked slides

Collection Instructions: Submit 12 unstained, positively charged, unbaked slides cut at 5-microns or 2 hematoxylin and eosin-stained slides and 10 unstained, positively charged, unbaked slides with 5-micron thick sections of the tumor tissue.


Forms

If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519)

Oncology Test Request (T729)

Useful For

Identifying non-small cell lung cancers that may benefit from treatment with epidermal growth factor receptor -targeted therapies or anaplastic lymphoma kinase inhibitors

Additional Tests

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

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
LCAF ALK (2p23), Lung Cancer, FISH, Ts Yes No

Testing Algorithm

When this test is ordered, the EGFR Gene, Mutation Analysis, 51 Mutation Panel, Tumor will always be performed. All specimens without an EGFR mutation will be automatically reflexed to testing for the ALK (2p23) rearrangement. Specimens with an identified EGFR mutation will result in cancellation of the LCAF test.

 

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

Method Name

Polymerase Chain Reaction (PCR)

Reporting Name

EGFR with ALK Reflex, Tumor

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Refrigerated 

Reject Due To

Specimens that have been decalcified (all methods)
Low tumor percentage
Insufficient amount of tumor
Specimens that have not been formalin-fixed, paraffin-embedded		 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.

 

Exon

Mutation

Protein change

Nucleotide change

Genotyp

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 macrodissection to enrich for tumor cells is performed prior to slide scraping.

 

The ALK fluorescence in situ hybridization (FISH) test uses an FDA-approved ALK dual-color, break-apart rearrangement probe kitset. The ALK probe consists of 2 probes that flank the ALK gene region at 2p23 (Abbott Molecular). Five-micron sections of formalin-fixed, paraffin-embedded tissue specimens are cut and mounted on positively-charged glass slides. The selection of tissue and the identification of target areas on the hematoxylin and eosin-stained slide are performed by a pathologist. The probe set is hybridized to the appropriate target areas and 2 technologists analyze 25 interphase nuclei each (50 total). Results are reported based on the guidelines include with the probe kit and package insert with the results expressed as the percent abnormal nuclei.(Unpublished Mayo method)

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 deletions, L858R, T790M, G719S, L861Q)

88381-Microdissection, manual

88271 x 2-DNA Probe (if appropriate)

88274-Interphase in situ hybridization (if appropriate)

88291-Interpretation and report (if appropriate)