CPT® Code 81438

Deleted

Hereditary neuroendocrine tumor disorders (eg, medullary thyroid carcinoma, parathyroid carcinoma, malignant pheochromocytoma or paraganglioma); duplication/deletion analysis panel, must include analyses for SDHB, SDHC, SDHD, and VHL

The CPT® Code 81438 pertains to molecular genetic testing specifically designed to identify hereditary neuroendocrine tumor disorders, which include conditions such as medullary thyroid carcinoma, parathyroid carcinoma, malignant pheochromocytoma, and paraganglioma. These tumors are characterized by their ability to secrete various hormones, including serotonin and histamine, which can lead to significant physiological effects. The testing involves a duplication/deletion analysis panel that must include analyses for the SDHB, SDHC, SDHD, and VHL genes. Each of these genes plays a critical role in cellular functions and tumor suppression. For instance, the MAX gene, associated with pheochromocytoma, encodes a protein that is part of a family involved in regulating gene expression. The SDHB, SDHC, and SDHD genes are essential components of the succinate dehydrogenase enzyme, which is crucial for mitochondrial function and energy production. Mutations in these genes can lead to various hereditary syndromes, including hereditary paraganglioma-pheochromocytoma and Cowden Syndrome, which are linked to multiple tumor types. The VHL gene is a tumor suppressor that, when mutated, can lead to uncontrolled cell growth and the formation of tumors or cysts, contributing to conditions such as von Hippel-Lindau disease. Additionally, the TMEM127 gene functions as a tumor suppressor, inhibiting pathways that promote cell growth and survival. The testing process involves obtaining a blood sample through venipuncture, followed by advanced techniques such as polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) to analyze the specified genes for any duplications or deletions.