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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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KIT Exon 9 & 11 Mutation Analysis - Germline
Test Information: Indication for Study:

To distinguish germ line mutation from somatic mutation when a novel mutation(s) is identified.
Test Details
Test Code: 9112
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 KIT Exon 9 & 11 Mutation Analysis performed on FFPE samples (#9110) or Fresh Frozen Tissue (#9111). Only exon(s) containing the novel mutation(s) will be sequenced. 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:

This test is designed to distinguish germ line mutation from somatic mutation. The limit of the test is approximately 20 mutated cells in 100 total cells (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. This test is not intended to detect minimal residual disease.

Useful Publications:
- Optimal Use of Targeted Agents for Advanced Gastrointestinal Stromal Tumours
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: KIT
Protein Name: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
Test Type: Mutation Analysis
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 (18-25C/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: 81404x1


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