IDH1 and IDH2 Mutation Analyses, Next-Generation Sequencing, Tumor

Casandra

Casandra Test Code MC25633Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID IDHTCPT Codes 81479, 88381

IDH1 and IDH2 Mutation Analyses, Next-Generation Sequencing, Tumor

Clinical Use

Use

Identifying specific mutations within the IDH1 and IDH2 genes that assist in tumor diagnosis/classification and predict response to targeted therapy. These mutations are primarily involved in central nervous system tumors and are considered diagnostic molecular biomarkers for diffuse gliomas. Additionally, IDH mutations are biomarkers in non-CNS tumors like acute myeloid leukemia and cholangiocarcinoma, with targeted therapies available for a subset of IDH-mutant tumors.

Special Instructions

Not provided.

Limitations

This test does not differentiate between somatic and germline alterations. It may not detect multi-exon deletions or larger scale genomic copy number variants. A negative result does not rule out the presence of variants, particularly those below the detection limits. Analytical sensitivity is 5% mutant allele frequency with a minimum of 500X coverage. The test detects point mutations and small deletions-insertions (delins) but not epigenetic modifications or larger structural variations. Reliable results depend on proper specimen collection and processing, preferably formalin-fixed, paraffin-embedded tissues.

Test Details

New York Approved