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Alphabetical Index


KIT and PDGFRA Mutation by Next Generation Sequencing (NGS) (8000101681)
Test Mnemonic:

KIT and PDGFRA Mutation by NGS

Specimen Requirements:
Collection:

Formalin fixed (10 percent neutral buffered formalin) and paraffin embedded tissue sections (prepared in Surgical Pathology).  Transport 5 unstained 5-10 micron slides (Minimum is 3 slides depending on the size of the tumor) with a matching HE slide marked tumor area.

Tumor cell smear/cell block (prepared in Cytopathology) or blood samples may be used when there are enough tumor cells in the sample.

Container:

Labeled microscope slides with tumor cells.

Minimum Volume:

Must have 20% tumor cells in the marked area for mutation analysis.

Storage/Transport:

Protect specimens from excessive heat. Ship in cooled container during summer months. Transport at room temperature or refrigerated

Causes for Rejection:

Specimens with less than 20% tumor cells. Incomplete and/or incorrect specimen identification.

Specimen Preparation:

Slides are prepared by Surgical Pathology or Cytopathology.

Methodology:

Next Generation Sequencing

Performed:
Lab:

Molecular Diagnostics Laboratory

Turnaround Time:

14 days

Reference Range:

Not detected

CPT 4 Code:

81272, 81314

Synonyms:

GIST, Gastrointestinal Stromal Tumor Mutations

Patient Preparation :

 

Tumor sample/sample with tumor cells.

Tumor sample/sample with tumor cells

 

 

 

 

Clinical Indication:

This assay is designed to detect mutations in exons 9, 11, 13, 14, 17, and 18 of KIT gene and in exons 12, 14, and 18 of PDGFRA gene. Mutations in KIT and PDGFRA genes may indicate responsiveness to certain targeted therapies. For specific treatment recommendations please refer to clinical practice guidelines, eg, NCCN Guidelines for gastrointestinal stromal tumors (GIST) and melanoma.

Effective Date: 03/12/2024
Reviewed By/Date: -
Approved By/Date: Dong, Jianli - 05/13/2024
When ordering tests for which Medicare or Medicaid reimbursement will be sought, physicians should only order tests that are medically necessary for the diagnosis or treatment of the patient. Components of the organ or disease panels may be ordered individually. The diagnostic information must substantiate all tests ordered and must be in the form of an ICD-10 code or its verbal equivalent.