Medical Genetics Test Details
View Custom Req | Tests in Custom Req: 0
|EGFR Mutation Analysis - Germline|
|Test Information:||Indication for Study:
Distinguish germ line mutation from somatic mutation.
Sequencing analysis of the region(s) containing the novel mutation(s) is performed in the forward and reverse directions in germ line cells|
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.
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.
- NCCN Guidelines?
- Somatic EGFR mutations and efficacy of tyrosine kinase inhibitors in NSCLC
|Methodology:||Sequencing analysis of the region(s) containing the novel mutation(s) is performed in the forward and reverse directions in germ line cells
|Protein Name:||Epidermal growth factor receptor|
|Sample & Shipping Information|
|Test Requisition:||Tumor Analysis|
|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|
|List Price:||*For Insurance or Institutional Prices, please call.|