CPT® Code 81345

TERT (telomerase reverse transcriptase) (eg, thyroid carcinoma, glioblastoma multiforme) gene analysis, targeted sequence analysis (eg, promoter region)

The CPT® Code 81345 pertains to the molecular genetic testing of the TERT (telomerase reverse transcriptase) gene, specifically focusing on targeted sequence analysis of its promoter region. This analysis is particularly relevant in the context of certain malignancies, such as thyroid carcinoma and glioblastoma multiforme. The TERT gene, located on the short (p) arm of chromosome 5 at position 15.33 (5p15.33), plays a crucial role in cellular aging and cancer biology by encoding the hTERT component of the telomerase enzyme. This enzyme is responsible for adding telomeres, which are protective DNA segments, to the ends of chromosomes, thereby regulating telomere length and contributing to cellular immortality in cancer cells. Mutations within the promoter region of the TERT gene are typically characterized as point mutations or small insertion/deletion mutations. The identification of these mutations through targeted sequence analysis is essential for tumor classification and can provide valuable prognostic information regarding the disease. By determining the presence, absence, and specific type of mutation, healthcare professionals can gain insights into the biological behavior of the tumor, which may influence treatment decisions and patient management. The code 81345 specifically reports the targeted sequence analysis of the TERT gene's promoter region, enabling the detection of functional variants and the exploration of intrinsic features that may reveal active sites for post-translational modifications, as well as any insertion, deletion, or point mutations that may be present.