IDH1 R132H Point Mutation by Immunohistochemistry with Reflex to IDH1 and IDH2 Mutation Analysis, Exon 4
Also known as: IDH1 RFLX
Use
This test is used to identify the most common IDH1 mutation in diffuse gliomas, specifically the IDH1 R132H mutation. It serves as a screening tool for molecular testing. A positive result indicates a probable IDH1 R132H mutation, while a negative result will reflex to IDH1 and IDH2 gene sequencing to detect less common mutations not identified by this test.
Special Instructions
Include surgical pathology report. If multiple specimens (blocks or slides) are sent to ARUP, they must be accompanied by an order comment indicating that the ARUP pathologist should choose the specimen most appropriate for testing, or individual orders for each sample submitted. A Pathologist Block Selection Fee will be added if applicable.
Limitations
This test is performed on FFPE tissue only and will not detect variants outside of the targeted regions or below the limit of detection. It cannot distinguish between somatic and germline variants, and therefore, additional clinical evaluation and genetic counseling should be considered if hereditary cancer is a concern. RNA variants and other variant types like copy number, methylation, and translocations will not be detected.
New York Approved
Methodology
Immunoassay (IHC)
Biomarkers
LOINC Codes
- 94736-6
- 31208-2
Result Turnaround Time
1-5 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
4 slides
Container
Paraffin block or 7 unstained (5-micron thick sections) positively charged slides
Collection Instructions
Formalin fix (10 percent neutral buffered formalin is preferred) and paraffin embed specimen. Transport tissue block or slides in a tissue transport kit (ARUP supply #47808). If sending precut slides, do not oven bake.
Storage Instructions
Protect paraffin block and/or slides from excessive heat.
Causes for Rejection
Paraffin block with less than 25 percent tumor tissue; specimens fixed in non-10% neutral buffered formalin; decalcified specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Indefinitely |
| Refrigerated | Indefinitely |
| Frozen | Unacceptable |