IDH1 and IDH2 Mutation Analysis Exon 4, Formalin-Fixed, Paraffin-Embedded (FFPE) Tissue (Change effective as of 05/20/24: Refer to 3017222)
Also known as: IDH12FFPE
Use
This assay detects hotspot mutations in exon 4 of the IDH1 (NM_005896.3) and IDH2 (NM_002168.3) genes, which are clinically relevant in certain solid tumors—including central nervous system tumors and cholangiocarcinoma—for purposes of diagnosis, prognosis, and eligibility for targeted therapies. It covers key hotspots in exon 4 only and is intended for tumor tissue specimens processed as formalin‑fixed, paraffin‑embedded (FFPE).
Special Instructions
Not provided.
Limitations
This test only detects single-nucleotide variants in the targeted hotspot regions of exon 4 of IDH1 and IDH2 and does not detect variants outside those regions or other types of alterations such as copy number changes, translocations, infiltrative rearrangements, methylation, tumor mutational burden, or RNA-level variants. Variants below the limit of detection (10% variant allele frequency) may not be detected. Tissue with low tumor cellularity, poorly preserved or decalcified (except EDTA) specimens may yield suboptimal results or require disclaimers or additional review. Variants classified as benign or likely benign are not reported; variant allelic fraction is not reported. Results must be interpreted in context of clinical and pathological findings.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 57723-9
- 35474-6
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Formalin-fixed (10% neutral buffered formalin, not decalcified) paraffin-embedded tumor tissue with ≥20% tumor burden; submit tissue block or 8 unstained 5‑micron slides (min: 5). New York clients: 10 unstained non‑baked slides plus 1 H&E-stained slide. Include surgical pathology report. Multiple blocks/slides require pathologist block selection instructions or separate orders.
Storage Instructions
Room temperature; refrigerated also acceptable. Ship in cooled container during summer months.
Causes for Rejection
Specimens with <20% tumor, fixed in non‑10% neutral buffered formalin, decalcified specimens (except EDTA) without disclaimer.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Indefinitely |
| Refrigerated | Indefinitely |
| Frozen | Unacceptable |