TERT Promoter Mutation Analysis, Droplet Digital PCR, Tumor
Use
Identifying specific mutations within the TERT promoter that assist in tumor diagnosis/classification. This test evaluates the presence of the c.-124C>T (C228T) and c.-146C>T (C250T) somatic mutations in the promoter region of the TERT gene using droplet digital PCR (ddPCR). TERT promoter mutations are diagnostic and grading molecular biomarkers in diffuse gliomas and meningiomas, and are involved in several non-CNS tumors. It is particularly useful for specimens with low number or proportion of tumor cells.
Special Instructions
Not provided.
Limitations
The test detects only the c.-124C>T (C228T) and c.-146C>T (C250T) hotspots in the TERT promoter. It does not detect other alterations within the TERT promoter. Analytical sensitivity of mutation detection is 1% at a minimum of 5% tumor cell content. False negatives or positives may result from uncommon genetic polymorphisms. Reliable results depend on proper specimen collection and processing.
New York Approved
Methodology
PCR-based (ddPCR)
Biomarkers
TERT
GeneTERT
Gene
LOINC Codes
- 95778-7 - TERT promotor region Mut Anl Tiss
- 50397-9 - Mol dx interp Bld/T Ql
- 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
6-12 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
144 mm^2
Minimum Volume
Not provided
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block or unstained slides with adequate tumor tissue. Use 10% neutral buffered formalin, not decalcified.
Storage Instructions
Ambient (preferred), Refrigerated
Causes for Rejection
Improper specimen collection and handling.