Thyroid Disorders and Thyroid Can-

cer 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.

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What are thyroid-related disorders:

Thyroid-related disorders are medically

defined as problems with the thyroid include a variety of disorders that can result in the gland producing too little thyroid hormone (hypothyroidism) or too much (hyperthyroidism). Thyroid disorders can affect heart rate, mood,

energy level, metabolism, bone health,

pregnancy, and many other functions. In many cases, thyroid-related diseases run in families and there is a genetic root for these disorders. Some of the most common thyroid disorders are Hyperthyroidism, Graves’ disease, Hypothyroidism, Hashimoto’s

Thyroiditis, Thyroid Tumors, Thyroid Cancer, and Thyroid Disorders in Women. The thyroid next generation sequencing (NGS) panel investigate germline variations in genes associated with

these disorders, and other conditions 

that may present with similar phenotypes.

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Clinical Utility:

The thyroid genetic testing panel result in more personalized treatment and symptom management, inform family members about their own risk factors,

connect patients to relevant resources and support, provide options for family planning. 

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What is the outcome of genetic test

results:

A. Positive Result. A positive test result

indicates a pathogenic variant linked to thyroid-related disorder has been identified.

In some cases, thyroid-related disorders are dominant in which one copy of defective gene is sufficient to cause the disease. Some other thyroid-

related disorders are recessive disorders, meaning that both copies of defective genes must be present to cause the disease. Having a

heterozygous pathogenic variation means that the individual is a carrier of the disease and may not experience the disease condition. This knowledge provides the patient and health care provider an

opportunity to understand and, in

some cases, manage their treatment

plans. 

B. Variation of uncertain significance (VUS). If genetic testing shows a change that has not been previously associated with thyroid-related disorders, the person’s test result may report a VUS. This result

may be interpreted as uncertain, which is to

say that the information does not help to clarify

contribution of VUS to disease condition and is typically not considered in making health care

decisions. Some gene variants may be

reclassified as researchers learn more about

variants. Variants that initially classified as

variants of uncertain significance may reclassified

as being benign (not clinically important) or may eventually be found to be associated with

disease phenotype. Therefore, it is important

for the person who is tested to keep in touch with the health care provider to ensure that they 

receive updates if any new information on the variant is learned.

C. Negative result. A negative test result means that the laboratory did not find the specific disease linked

variant on list of genes that the test was designed to detect. Therefore, patient does not have a genetic variation associated with thyroid disorders in the

genes tested by the thyroid genetic

testing panel.