IDH Mutations
General Information
Lab Name
IDH Mutations
Lab Code
IDH
Epic Name
Order using "UW Genetics and Solid Tumor Test Request"
For solid tumors only. Use Heme Single Gene by NGS [HCAPSG] for hematopoietic malignancies.
See tip sheet for more information (internal link).
Description
Please note that IDH Mutations is intended for solid tumors, for testing related to hematologic malignancies, please order - Heme Single Gene by NGS [HCAPSG]. Consultation with a Director can be requested to determine the appropriate testing. Please contact the laboratory at 206-598-6429 for further questions.
IDH mutations are also frequently observed secondary glioblastoma multiforme (GBM), but rarely in primary GBM. Testing for IDH mutations may be useful for diagnosis and prognosis in glioma, and for risk stratification in AML.
This test detects mutations in exons 4 of the IDH1 and IDH2 genes, which includes codons 132 (IDH1) and 140 & 172 (IDH2).
References
- Horbinski C, Kelly L, Nikiforov YE, Durso MB, and Nikiforova MN. Detection of IDH1 and IDH2 mutations by fluorescence melting curve analysis as a diagnostic tool for brain biopsies. J Mol Diagn 2010, 12:487-92. 20431032
- Abbas S, et al. Acquired mutations in the genes encoding IDH1 and IDH2 both are recurrent aberrations in acute myeloid leukemia: prevalence and prognostic value. Blood 2010, 116:2122-6. 20538800
- Patel JP, et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 2012, 366:1079-89. 22417203
Synonyms
glioma, IDH1 R132 mutation, IDH2 R140 mutation, R172 mutation
Components
| Code | Name |
|---|---|
| IDHRE | IDH Result |
| IDHCH | IDH Clinical History |
| IDHIN | IDH Interpretation |
| IDHMT | IDH Method and Information |
| IDHDI | IDH Director |
Interpretation
Method
Next-generation sequencing. Exon 4 in the IDH1 and IDH2 genes are captured, squenced, and analyzed. See UW_Oncoplex description for additional details. This test was developed and its performance characteristics determined by the Department of Laboratory Medicine at the University of Washington.
Reference Range
See individual components
Ref. Range Notes
No mutation detected.
Guidelines
Ordering & Collection
Specimen Type
Collection
Requirements for Specimen Selection
- To ensure clinically relevant results, the most recent and/or metastatic sample is preferred to older specimens, provided sufficient tumor is present (see point 2).
- To ensure detection of all types of mutations there should be at least 10% tumor cells in the tissue area processed for DNA for mutation detection and 20% tumor cells for microsatellite instability evaluation. If there is more than one tissue block, please provide the block that has the greatest percentage of neoplastic nuclei.
- Tissue samples and pathology reports will be reviewed by directors upon receipt for acceptability prior to testing. Director consultation for tissue selection is available if needed (contact Genetics lab).
Specimen Types
Tissue samples
Send one of the following:
- Slides: 1 slide at 4-micron thickness stained with hematoxylin-and-eosin (H&E) AND 10 unstained, non-baked slides at 10-micron thickness (a minimum of 5 unstained slides is acceptable). Unstained slides can be on charged or uncharged slides.
- Tissue Blocks: Provide complete formalin-fixed tissue block containing tumor tissue. Tissue block will be returned at completion of testing.
- Fresh/frozen tissue: 5 microgram tissue in cell culture medium or frozen tissue stored at -20C. Tumor percentage will not be determined prior to sequencing studies.
NOTE: In order to ensure that enough DNA is obtained, the minimum acceptable tissue area is 10 square millimeters when ten 10-micron slides are supplied (1 cubic millimeter of tissue).
Purified DNA
5 micrograms ANDa reference hematoxylin-and-eosin (H&E) stained slide and pathology report required.
Bone Marrow
1 to 2 mL Bone Marrow in LAVENDER TOP (EDTA) tube
Blood
6 mL blood in LAVENDER TOP (EDTA) tube.
Alternative specimens may be acceptable with approval (contact: 206-598-1149).
For ADD-ON after prior testing, contact Genetics lab.
Unacceptable samples
We cannot accept decalcified samples or tissue samples treated with fixatives other than formalin.
Quantity:
Requested:
- Tissue: 10 unstained slides (10-micron thickness) plus one H&E-stained slide.
- Extracted DNA: 5 microgram Bone Marrow: 2 mL
- Blood: 6 mL
Minimum:
- Tissue: 5 unstained slides (10-micron thickness) plus one H&E-stained slide.
- Extracted DNA: 100-250 nanograms Bone Marrow: 1 mL
- Blood: 3 mL
Forms & Requisitions
Providers with access to the UW implementation of Epic (i.e., FHCC, HMC, SCCA, UWMC, UWNW) may order this test using the order "UW Genetics and Solid Tumor Test Request." See tip sheet for more information (internal link).
Handling Instructions
Attach a copy of the pathology report for the tumor sample being submitted.
Hold slides or tissue blocks at room temperature.
Outside Laboratories: Ship at room temperature.
Stability: unstained slides or tissue blocks stable at room temperature for at least 2 years.
Quantity
requested: Amounts as noted above
minimum: Amounts as noted above
Processing
Performance
LIS Dept Code
Genetics (GEN)
Performing Location(s)
| UW-MT |
Genetics
Attention: Genetics Lab Tel: 206-598–6429 M–F (7:30 AM–4:00 PM) Tel (EXOME only): 206-543-0459 |
Faculty |
|---|
Frequency
Run at least once a week; Typical Turnaround: 3 weeks *Turn around times may vary based on factors such as tissue acquisition and insurance preauthorization.
Available STAT?
No
Billing & Coding
CPT codes
81120, 81121
Billing Comments
For pricing information, contact Client Support Services 206-520-4600 or 800-713-5198.
LOINC
Interfaced Order Code
UOW2081