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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 - Tumor
Test Information: Identification of mutations in exons 9 and 11 of the KIT gene.
Test Details
Test Code: 9110
Test Includes: Sequence Analysis of exons 9 & 11 of the KIT gene.

Special Notes: This test can also be performed on Fresh Frozen Tissue (#9111).

Germline mutation analysis is required if novel mutations are detected. Please see detailed requirements under test code (#9112).

Mutations in the KIT gene are associated with gastrointestinal stromal tumors (GIST), mast cell disease, acute myelogenous leukemia (AML), and piebaldism. Mutation in exons 11 and 9 are commonly seen in soft tissue sarcoma, such as GIST, and render tumor cells different responses to targeted therapy. Identification of mutations in KIT gene is clinically relevant for disease diagnosis, prognosis, and prediction of response to targeted treatments.

Technical Limitations:

This test is designed to detect mutations in exon 11 and 9 of the KIT gene only. 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: Sequence analysis is performed in both forward and reverse directions of exons 9 & 11 of the KIT gene.
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: FFPE - Slide(s)
Requirements: 5 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: 81404x1


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