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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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EGFR Exons 19 & 21 Mutation Analysis
Test Information: Indication for Study:

Identification of mutations (point mutations, insertions, deletions) in exons 19 and 21 of the epidermal growth factor receptor (EGFR) gene.
Test Details
Test Code: 9033
Special Notes: EGFR mutations are found in a subset of non-small cell lung cancer (NSCLC). The presence of mutations may confer an improved response to EGFR-targeted therapy.

Genomic DNA is used for PCR amplification of exons 19 and 21 of the EGFR gene (mRNA reference sequence: NM_005228.3). Primers for all exons flank the respective intron/exon junctions. Direct sequence analysis of PCR products was performed in both forward and reverse directions using automated fluorescence dideoxy sequencing methods. Reference sequence NC_000007.13 is used for sequence comparison. The mutation nomenclature is based on the convention recommended by the Human Genome Variation Society http://www.hgvs.org/mutnomen/.

Technical Limitations:
Direct sequence analysis of PCR products is performed in both forward and reverse direction. The sensitivity of detection is approximately 20 mutated cells per 100 total cells in the sample (20%).

Results of this test must always be interpreted in the context of relevant clinical and pathological data, and should not be used alone for a diagnosis of malignancy.


Useful Links:
- NCCN Guidelines™
- HGMD
- SM-EGFR-DB

Useful Publications:
- Somatic EGFR mutations and efficacy of tyrosine kinase inhibitors in NSCLC
Technical Information
Methodology: Polymerase Chain Reaction (PCR) and Sequence Analysis is performed in both forward and reverse directions of exons 19 and 21 of the tyrosine kinase domain of the EGFR gene.
Gene Name: EGFR
Protein Name: Epidermal growth factor receptor
Test Type: Mutation Analysis
Sample & Shipping Information
Test Requisition: Tumor Analysis
Specimen Type: FFPE - Slide(s)
Requirements: 10 unstained 5um FFPE slides containing adequate amounts of tumor to be analyzed with areas of tumor marked. Please include a copy of corresponding surgical pathology report.

Transport Temperature: sent at ambient temperature (18-25C/64-77F). Protect paraffin tissue from excessive heat. Ship in cooled container during summer months.

Unacceptable Conditions: No tumor in tissue. Frozen specimens and specimens fixed/processed in alternative fixatives.

Stability: Ambient: Indefinitely; Refrigerated: Acceptable.
Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Do not heat or freeze.


Specimen Type: FFPE - Tumor Block
Requirements: Paraffin-embedded, formalin-fixed tissue block containing adequate amounts of tumor to be analyzed with areas of tumor marked. Please include a copy of corresponding surgical pathology report.

Transport Temperature: sent at ambient temperature (18-25C/64-77F). Protect paraffin tissue from excessive heat. Ship in cooled container during summer months.

Unacceptable Conditions: No tumor in tissue. Frozen specimens and specimens fixed/processed in alternative fixatives.

Stability: Ambient: Indefinitely; Refrigerated: Acceptable.
Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Do not heat or freeze.


Turn Around Time: 10 - 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81235 x 1


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