Sign in →

Test Code TERTD TERT Promoter Mutation Analysis, Droplet Digital PCR, Tumor


Ordering Guidance


For the preferred test to assess for somatic hotspot mutations in the TERT, IDH1, and IDH2 genes, order IDTRT / IDH1, IDH2 and TERT Mutation Analysis, Next-Generation Sequencing, Tumor.

 

If this test is ordered with IDHT / IDH1 and IDH2 Mutations Analyses, Next-Generation Sequencing, Tumor, this test will be canceled and ordered as IDTRT.



Necessary Information


1. A pathology report (final or preliminary) is required and must accompany specimen for testing to be performed.

2. The following information must be included in the report provided.

-Patient name

-Block number-must be on all blocks, slides and paperwork (can be handwritten on the paperwork)

-Date of tissue collection

-Source of the tissue



Specimen Required


This assay requires at least 5% nuclei of tumor cells/cells of interest.

-Preferred amount of tumor area with sufficient percent tumor nuclei: tissue144 mm(2)

-These amounts are cumulative over up to 10 unstained slides and must have adequate percent nuclei of tumor cells/cells of interest.

-Tissue fixation: 10% neutral buffered formalin, not decalcified

-Cytology fixatives: Cytology smears fixed in alcohol and thin preps fixed with CytoLyt.

 

Preferred:

Specimen Type: Tissue block

Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block with acceptable percent nuclei of tumor cells/cells of interest.

 

Acceptable:

Specimen Type: Tissue slides

Slides: 1 Hematoxylin and eosin stained and 10 unstained

Collection Instructions: Submit 1 slide stained with hematoxylin and eosin and 10 unstained, nonbaked slides with 5-micron thick sections.

Note: The total amount of required cell nuclei can be obtained by scraping up to 10 slides from the same block.

 

Specimen Type: Cytology slide (direct smears or ThinPrep)

Slides: 1 to 3 slides

Collection Instructions: Submit 1 to 3 slides stained and coverslipped with a preferred total of 3000 nucleated cells or a minimum of at least 350 nucleated cells.

Note: Glass coverslips are preferred; plastic coverslips are acceptable but will result in longer turnaround times.

Additional Information: Cytology slides will not be returned.


Useful For

Identifying specific mutations within the TERT promoter that assist in tumor diagnosis/classification

Method Name

Droplet Digital Polymerase Chain Reaction (ddPCR)

Reporting Name

TERT Promoter Analysis ddPCR, Tumor

Specimen Type

Varies

Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Refrigerated 

Reject Due To

Specimens that have been decalcified (all methods)
Specimens that have not been formalin-fixed, paraffin-embedded excluding cytology slides
Extracted nucleic acid (DNA/RNA)
Reject

Clinical Information

The TERT gene encodes the catalytic subunit of telomerase, an enzyme complex that regulates telomere length. Mutations in the TERT promoter, primarily involving mutational hotspot positions c.-124 (also known as C228) and c.-146 (also known as C250), increase telomerase activity allowing tumor cells to overcome cellular senescence. In central nervous system (CNS) tumors, TERT promoter mutations are a diagnostic and grading molecular biomarker in diffuse gliomas and meningioma. TERT promoter mutations are observed in other CNS tumor types and are not seen in CNS reactive non-neoplastic processes. TERT promoter mutations are also a molecular biomarker in non-CNS tumors, including hepatocellular tumors, melanoma, myxoid liposarcoma, thyroid carcinoma and urothelial carcinoma.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Friday

Report Available

6 to 12 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81345

88381-Microdissection, manual