KIT Mutations Melanoma

Casandra

Casandra Test Code AR27104Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3004283CPT Codes 81272, 81314

KIT Mutations Melanoma

Also known as: KITMELAN

Clinical Use

Order Test

Use

This test is used to detect activating mutations in the KIT and PDGFRA genes, which can predict response to tyrosine kinase inhibitor (TKI) therapy. Mutations in the KIT gene may indicate responsiveness to certain targeted therapies. For specific treatment recommendations, refer to the NCCN Clinical Practice Guidelines in Oncology for Melanoma. The test evaluates variants in tumor tissue only and cannot distinguish between somatic and germline variants.

Special Instructions

Not provided.

Limitations

This test will not detect mutations in other locations within the KIT or PDGFRA genes, in other genes, or below the limit of detection. Some large insertion/deletion mutations, especially those greater than 60bp, may not be detected. Tissue samples yielding at least 10ng are acceptable but may yield suboptimal results if yield is less than 50ng. Limit of detection is 5 percent mutant allele frequency for single nucleotide variants (SNV) and small to medium sized multi-nucleotide variants (MNV), specifically insertions/deletions less than 60bp. This test is not intended to detect minimal residual disease.

Test Details

Methodology

NGS

Biomarkers

KIT, PDGFRA

Gene

SNV/Indel

Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

LOINC Codes

Order Codes

55201-8
57723-9

Result Turnaround Time

10-12 days

Specimen

Tissue (FFPE)

Volume

Not provided

Minimum Volume

Not provided

Collection Instructions

Formalin fix (10 percent neutral buffered formalin) and paraffin embed tissue. Transport block and/or slides in a tissue transport kit (ARUP supply #47808). Transport 8 unstained 5-micron slides. (Min: 5 slides)

Storage Instructions

Room temperature. Also acceptable: Refrigerated. Ship in cooled container during summer months.

Causes for Rejection

Less than 10 percent tumor. Specimens fixed in any fixative other than 10 percent neutral buffered formalin. Decalcified specimens. FNA smears with less than 50 tumor cells.