Multiple Endocrine Neoplasia Type 2 (MEN2), RET Sequencing

Casandra

Casandra Test Code AR31252Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3004572CPT Code 81406

Multiple Endocrine Neoplasia Type 2 (MEN2), RET Sequencing

Also known as: MEN2 NGS

Clinical Use

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Use

Diagnostic and predictive testing for multiple endocrine neoplasia type 2 (MEN2) syndrome caused by pathogenic variants in the RET gene. MEN2 is classified into subtypes MEN2A, MEN2B, and familial medullary thyroid cancer (FMTC). These subtypes have an increased risk of medullary thyroid cancer (MTC) and other associated conditions such as pheochromocytoma and parathyroid hyperplasia. The test aims to identify pathogenic variants in the RET gene to confirm a diagnosis and guide management strategies for hereditary cancer risk.

Special Instructions

Testing is not New York state approved. Specimens from New York clients will be sent to a New York state-approved laboratory. The test requires the completion of specific forms, such as the Hereditary Cancer Testing Patient History Form and Informed Consent for Genetic Testing, particularly for New York patients.

Limitations

A negative result does not exclude a diagnosis of MEN2. This test only detects variants within the coding regions and intron-exon boundaries of the RET gene. Large deletions/duplications, regulatory region variants, and deep intronic variants will not be identified by massively parallel sequencing. Diagnostic errors can occur due to rare sequence variations, presence of pseudogenes, repetitive or homologous regions. The test is not intended to detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mtDNA mutations, or repeat expansions.

Test Details