TERT promoter Next Gen Sequencing Test NGS Central Nervous System (CNS) Tumor Glioblastoma Glioma Astrocytoma Oligodendroglioma Diffuse glioma Hepatocellular carcinoma Hepatocellular adenoma TERT
Assisting in central nervous system tumor classification
This test is not useful for hematological malignancies.
Slides: 1 H & E, 10 unstained
Pathology report (final or preliminary) at minimum containing the following information must accompany specimen in order for testing to be performed:
1. Patient name
2. Block number-must be on all blocks, slides and paperwork (can be handwritten on the paperwork)
3. Tissue collection date
4. Source of the tissue
This assay requires at least 20% tumor nuclei.
-Preferred amount of tumor area with sufficient percent tumor nuclei: tissue144 mm(2)
-Minimum amount of tumor area: tissue 36 mm(2).
-These amounts are cumulative over up to 10 unstained slides and must have adequate percent tumor nuclei.
-Tissue fixation: 10% neutral buffered formalin, not decalcified
-For specimen preparation guidance, see Special Instructions on Mayo website. In this document, the sizes are given as 4mm x 4mm x 10 slides as preferred: approximate/equivalent to 144 mm(2) and the minimum as 3mm x 1mm x 10 slides: approximate/equivalent to 36mm(2).
This test cannot differentiate between somatic and germline alterations. Additional testing may be necessary to clarify the significance of results if there is a potential hereditary risk.
DNA variants of uncertain significance may be identified.
A negative (wild-type) result does not rule out the presence of a mutation that may be present but below the limits of detection of this assay.
Point mutations and small insertion/deletion mutations will be detected with in the promoter region of the TERT gene only.
This test does not detect structural variants, genomic copy number variants, or large single or multiexon deletions or duplications in the TERT gene.
Rare polymorphisms may be present that could lead to false-negative or false-positive results. Test results should be interpreted in the context of clinical findings, tumor sampling, and other laboratory data. If results obtained do not match other clinical or laboratory findings, contact the laboratory for updated interpretation. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.
Reliable results are dependent on adequate specimen collection and processing. This test has been validated on cytology slides and formalin-fixed, paraffin-embedded tissues; other types of fixatives are discouraged. Improper treatment of tissues, such as decalcification, may cause PCR failure.
An interpretive report will be provided.