Hereditary Thyroid Cancer Panel, Sequencing and Deletion/Duplication

Also known as: THYCAN NGS

Clinical Use

Use

The Hereditary Thyroid Cancer Panel, Sequencing and Deletion/Duplication test is recommended for individuals with a personal or family history of thyroid cancer to confirm a hereditary cause. Hereditary thyroid cancer is often characterized by an early onset before age 50, the presence of multiple related thyroid cancers, and/or similar cancers in family members. Approximately 5% of thyroid cancers are associated with a hereditary cause, with pathogenic germline variants in specific genes contributing to these conditions. The test targets genes known to be implicated in hereditary thyroid cancer syndromes, such as medullary thyroid carcinoma and pheochromocytoma.

Special Instructions

Not provided.

Limitations

A negative result does not exclude a heritable form of thyroid cancer or other cancer. The test only detects variants within the coding regions and exon-intron boundaries of the targeted genes. Variants in non-coding regions, deep intronic variants, and regulatory regions are not analyzed. Additionally, the test may have limitations in detecting insertions, duplications, and deletions of certain sizes. Specifically, single exon deletions have reduced sensitivity. Technical limitations may also arise from pseudogenes, repetitive, or homologous regions, potentially impacting variant identification. This test is not designed to detect somatic variants, mosaicism, gene conversion, complex inversions, translocations, mitochondrial DNA variants, or repeat expansions.

Test Details