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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 - Germline
Test Information: Indication for Study:

Distinguish germ line mutation from somatic mutation.
Test Details
Test Code: 9032
Test Includes: Sequencing analysis of the region(s) containing the novel mutation(s) is performed in the forward and reverse directions in germ line cells


Special Notes: This test can only be performed if there is a previously identified novel mutation(s) identified in EGFR Mutation Analysis performed on FFPE samples (#9030) or Fresh Frozen Tissue (#9031). A laboratory report containing the novel mutation information. If the original novel mutation(s) was identified in another laboratory, this testing must be discussed with one of our genetic counselors prior to sending a specimen.

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: Sequencing analysis of the region(s) containing the novel mutation(s) is performed in the forward and reverse directions in germ line cells
Gene Name: EGFR
Protein Name: Epidermal growth factor receptor
Sample & Shipping Information
Test Requisition: Tumor Analysis
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).
Shipping Conditions: Ship at ambient temperature (18-25°C/64-77°F) in an insulated container by overnight courier. Do not heat or freeze.

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


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