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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 Mutation Analysis - Tumor
Test Information: Indication for Study:

Identification of mutations (point mutations, insertions, deletions) in exons 18-21 of the epidermal growth factor receptor (EGFR) gene. 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.
Test Details
Test Code: 9031
Test Includes: Polymerase Chain Reaction and Sequence Analysis of exons 18-21 of the EGFR gene.

Special Notes: This test can also be performed on FFPE samples (#9030).

Germline mutation analysis is required if novel mutations are detected. Please see detailed requirements under test code (#9032).

Technical Limitations:

Patient DNA is isolated, purified and subjected to PCR amplification using oligonucleotide primers flanking intron/exon junction of exons 18-21. Direct sequence analysis of PCR products was 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 18 through 21 of the tyrosine kinase domain of the EGFR gene.
Gene Name: EGFR
Protein Name: Epidermal growth factor receptor
Sample & Shipping Information
Test Requisition: Tumor Analysis
Specimen Type: Fresh Frozen Tissue
Requirements: 150 mg (0.5-2.0 cm3) Fresh tissue snap frozen at -20°C. Store at -20°C.
Shipping Conditions: Ship on minimum of 10 lbs. of dry ice in an insulated container by overnight courier.

Turn Around Time: 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81235x1


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