POLE Mutation Analysis, Next-Generation Sequencing, Tumor
Use
This test is used for identifying specific mutations within the POLE gene to assist in tumor diagnosis and classification. It evaluates for somatic mutations within solid tumor samples, especially those known to be associated with various tumor types, including endometrial, ovarian, lung, colorectal cancers, and diffuse glioma. POLE alterations are linked with ultramutated tumors with a high tumor mutation burden.
Special Instructions
A pathology report, including patient name, block number, tissue collection date, and source of the tissue, must accompany the specimen. Unused unstained slides are not returned. Cytology slides will not be returned, but an image of the slides will be stored per regulatory requirements.
Limitations
This test does not assess germline alterations within the POLE gene. It cannot differentiate between somatic and germline mutations, and additional testing may be necessary if there is a potential hereditary risk. The test may not detect multi-exon deletions, duplications, larger-scale genomic copy number variants, copy neutral loss of heterozygosity, or epigenetic modifications such as promoter methylation. Variants of uncertain significance may be identified.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 105597-9
- 82939-0
- 69047-9
- 48767-8
- 31208-2
- 80398-1
- 85069-3
- 62364-5
- 18771-6
Result Turnaround Time
12-20 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block with an acceptable amount of tumor tissue. For tissue slide, 1 slide stained with hematoxylin and eosin and 10 unstained, nonbaked slides with 5-micron thick sections of the tumor tissue. For cytology slide, submit 1 to 3 slides stained and coverslipped with a total of 5000 nucleated cells preferred or at least 3000 nucleated cells minimum.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient (preferred) |