Discovering Genetic Changes in your Thyroid.

There are around 600,000 people in the United States annually that undergo a fine-needle aspiration (FNA) biopsy to examine thyroid nodules. During these biopsies, cells are extracted and tested to determine cellular condition (whether they are benign or cancerous) using microscopy/cytology-based methods.

Although accurate, 20%-25% of FNA biopsies are returned with an indeterminate result. Most patients undergo diagnostic surgery, with approximately 60% being overtreated or undertreated. Because of this, microscopical observations of cells from nodules and surgical removal are not the most optimal treatment options for patients.

Today, management of thyroid nodules has expanded to molecular genetic testing, using next generation sequencing (NGS) technology. Highly-sensitive NGS technology determines genetic changes in thyroid nodules, resulting in informative risk assessment and avoidance of unnecessary surgeries.

Our Thyroid Genetics Test examines genetic changes that are relevant for hypothyroidism, thyroid hormone resistance, and thyroid risk panel. This NGS panel consists of 45 genes. These are listed in the table along with the disease-related conditions.

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