Thyroid Disorders and Thyroid Cancer Genetic (Thyroid) Panel:
This panel investigates genetic variances related to thyroid-related disorders, thyroid dyshormonogenesis, hyperthyroidism, hypothyroidism, thyroid cancers, hemochromatosis and secondary reduction of thyroid hormone.
What are thyroid-related disorders:
Thyroid-related disorders are medically defined as problems with the thyroid, including too little (hypothyroidism) or too much (hyperthyroidism) hormone. These disorders affect heart rate, mood, energy, metabolism, bone health, pregnancy, and more. Many are hereditary. Common disorders include Hyperthyroidism, Graves’ disease, Hypothyroidism, Hashimoto’s Thyroiditis, Thyroid Tumors, Thyroid Cancer, and Thyroid Disorders in Women.
Clinical Utility:
Testing helps personalize treatment, informs family risk, connects patients to support, and aids family planning.
Genetic Test Outcomes:
- A. Positive: A disease-causing variant is found. Some disorders are dominant (one copy needed), others recessive (both copies). Carriers may not have the condition but may pass it on.
- B. VUS (Variant of Uncertain Significance): A genetic change is found but its link to disease is unclear. Not used for care decisions unless reclassified in future.
- C. Negative: No disease-causing variant found in tested genes.
Purpose of Testing:
Ideal for those with personal/family history of thyroid disorders, especially when multiple family members are affected or if treatment resistance occurs. Helps with diagnosis, therapy planning, and prevention strategies.
Method:
The test screens for inherited mutations in genes affecting thyroid hormone and TSH levels. Up to 67{788689b1f96e6e5a29b7ebdc0a74f574bcea9748ac8e484e1c92285099e82813} of TSH and hormone levels are genetically determined. Testing determines whether thyroid issues stem from inherited conditions.
Test Platform:
Laboratory Developed Test (LDT) by Express Gene using Twist Exome 2.0 and Illumina NovaSeq6000 NGS. Not FDA approved.
Limitations:
Does not detect:
- Repeat expansions
- Large deletions/duplications
- Copy number variants
- Regulatory region mutations
- Structural rearrangements
- Variants in low-complexity or complex genomic regions
- Short tandem repeats or pseudogenes
- Low-level mosaicism