IDH1 and IDH2 Mutation Analyses, Next-Generation Sequencing, Tumor
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.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
IDH1, IDH2
Gene
LOINC Codes
- 104323-1 - IDH1+IDH2 Full Mut Anl Bld/T
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 31208-2 - Specimen source
- 80398-1 - Unique ID Current sample
- 85069-3 - Lab test method
- 62364-5 - Test performance info Spec
- 18771-6 - Provider signing name
Result Turnaround Time
12-20 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
36 mm^2
Container
Formalin-fixed, paraffin-embedded tissue block
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block with adequate tumor tissue amount and nuclei percent.