Berries Health Thyroid Disorders and Thyroid Cancer Genetic (Thyroid) Panel

The Berries Health Thyroid Disorders and Thyroid Cancer Panel investigates genetic variations associated with various thyroid-related conditions, including thyroid dyshormonogenesis, hyperthyroidism, hypothyroidism, thyroid cancers, hemochromatosis, and secondary reductions in thyroid hormone levels. 

Purpose of the Thyroid Genetic Test 

The thyroid genetic testing panel is suitable for individuals with a personal or family history of thyroid disorders, especially if multiple family members are affected or if the conditions are refractory to treatment. This panel aids in confirming diagnoses and guiding treatment options. 

Patients with thyroid-related disorders may benefit from supplemental therapies, hormone replacement, or preventative strategies. Genetic testing can facilitate the development of management plans and assist physicians in confirming accurate diagnoses. 

By confirming a diagnosis, the thyroid genetic testing panel can also help identify risks for additional symptoms, prevent exposure to harmful environmental factors, and recommend lifestyle modifications. 

Clinical Utility

The thyroid genetic testing panel enables personalized treatment and symptom management, informs family members about their hereditary risk factors, connects patients to relevant resources and support, and provides options for family planning. 

Methodology

The test identifies inherited genetic variations (germline mutations) linked to thyroid disorders. Genes encode instructions in DNA for the synthesis of proteins, and different individuals may have varying versions of the same gene, each with distinct DNA sequences. Some gene variants can impact health, including those associated with conditions like hypothyroidism. 

Numerous genes are involved in thyroid-related disorders, influencing both thyroid hormone and thyrotropin (TSH) levels, as well as susceptibility to autoimmune thyroid disease. Research suggests that up to 67% of circulating thyroid hormone and TSH concentrations may be genetically determined, indicating a genetic basis for variations. Testing for harmful (pathogenic) variants in these genes can confirm whether a condition results from an inherited syndrome. 

The thyroid genetic test panel examines specific genes for genetic changes compared to human reference variants associated with thyroid disease. The Berries Health Thyroid Disorders and Thyroid Cancer Genetic Panel is a Laboratory Developed Test (LDT) validated at Berries Health’s laboratory partner, utilizing Twist Exome 2.0 and Illumina NovaSeq6000 NGS Platform. This test is not FDA-cleared or approved. 

Outcomes of Genetic Test Results

1. Positive Result: A positive result indicates the identification of a pathogenic variant linked to a thyroid-related disorder. Some thyroid disorders are dominant, meaning one defective gene copy is sufficient to cause the disease, while others are recessive, requiring both copies. A heterozygous pathogenic variation suggests the individual is a carrier and may not display symptoms. This knowledge enables patients and healthcare providers to more effectively manage treatment plans.
2. Variation of Uncertain Significance (VUS): If genetic testing reveals a change that has not been previously associated with thyroid disorders, it may be reported as a VUS. This result is considered uncertain and typically does not contribute to healthcare decision-making. As knowledge advances, some variants may be reclassified; some initially classified as uncertain may later be deemed benign or linked to disease. It is vital for individuals to maintain communication with healthcare providers regarding updates on variants.
3. Negative Result: A negative test result means the laboratory did not find any specific disease-linked variants among the tested genes. Thus, the patient does not have a genetic variation associated with thyroid disorders within the panel analyzed by the thyroid genetic testing.

Limitations of Testing 

This test is designed to identify germline pathogenic variants, including single nucleotide polymorphisms (SNPs) and small insertions and deletions (indels) of up to 1 kilobase pair (kbp). It also analyzes mutations within coding regions and the exon-intron boundaries, specifically within 50 base pairs. Any deletions or duplications larger than 1 kbp that are reportable will be confirmed using orthogonal methods before being included in the final report.

Thyroid Disorders and Thyroid Cancer Genetic (Thyroid) Panel