ALK Mutation Analysis, Next-Generation Sequencing, Tumor

Casandra

Casandra Test Code MC70741Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID ALKTCPT Codes 81479, 88381

ALK Mutation Analysis, Next-Generation Sequencing, Tumor

Clinical Use

Use

This test uses targeted next-generation sequencing to evaluate for somatic mutations within the ALK gene in solid tumor samples. It is useful for identifying mutations that predict resistance to ALK-inhibitors. This test is not suitable for detecting germline alterations or ALK gene fusions. The test focuses on providing information to aid in the management of patients by identifying ALK resistance mutations, which is crucial for guiding therapeutic decisions, particularly in relation to ALK-inhibitors.

Special Instructions

A pathology report, including patient name, block number, tissue collection date, and source of the tissue, must accompany the specimen for testing to be performed. The assay requires at least 20% tumor nuclei to proceed with testing.

Limitations

This test cannot differentiate between somatic and germline alterations. It does not detect ALK gene fusion. DNA variants of uncertain significance may be identified. A negative result does not rule out a variant below the detection limit. This test can detect point mutations and small deletion-insertion mutations in the ALK gene, but not multi-exon deletions, larger-scale genomic copy number variants, or epigenetic modifications such as promoter methylation. Reliable results depend on proper specimen collection and processing, and the test is validated for cytology slides and FFPE tissues. Improper treatment of tissues may cause PCR failure.

Test Details

New York Approved