The thyroid gland plays a critical role in regulating metabolism, energy production, and overall hormonal balance. Genetic mutations can contribute to thyroid dysfunction, including hypothyroidism, hyperthyroidism, thyroid cancer, and autoimmune thyroid diseases such as Hashimoto’s thyroiditis and Graves’ disease.

Genetic testing for thyroid disorders helps identify inherited mutations that may increase a person’s risk of developing thyroid-related conditions, allowing for early detection, personalized treatment, and family risk assessment.

This test analyzes specific genes associated with thyroid disorders using Next-Generation Sequencing (NGS) technology. It helps detect genetic mutations that influence thyroid hormone production, autoimmune responses, and thyroid cancer susceptibility.

Genetic testing may be beneficial for individuals who:
✅ Have a family history of thyroid disorders (hypothyroidism, hyperthyroidism, or thyroid cancer)
✅ Have early-onset or severe thyroid dysfunction that does not respond to standard treatments
✅ Are diagnosed with multiple endocrine neoplasia (MEN) syndromes
✅ Have recurrent thyroid nodules or medullary thyroid carcinoma (MTC)
✅ Have autoimmune thyroid diseases such as Hashimoto’s thyroiditis or Graves’ disease
✅ Need a personalized treatment plan based on genetic findings

Thyroid Disorders Covered by Genetic Testing

1. Congenital Hypothyroidism

• TSHR Gene – Thyroid-stimulating hormone receptor mutations
• DUOX2, PAX8, NKX2-1 Genes – Affect thyroid hormone synthesis and development

2. Autoimmune Thyroid Diseases

• CTLA4, PTPN22, HLA-DR3, HLA-DR5 – Linked to Hashimoto’s thyroiditis and Graves’ disease

3. Thyroid Cancer Genetic Risk Assessment

• RET Gene (Multiple Endocrine Neoplasia Type 2 – MEN2A, MEN2B) – Associated with Medullary Thyroid Carcinoma (MTC)
• BRAF, TERT, TP53 Mutations – Associated with Papillary and Anaplastic Thyroid Carcinoma
• PTEN Gene – Cowden Syndrome (increased risk of thyroid cancer and other malignancies)

4. Resistance to Thyroid Hormone (RTH)

• THRB Gene – Linked to reduced thyroid hormone sensitivity, leading to high T3/T4 but normal TSH levels

1️⃣ Sample Collection – A blood or saliva sample is collected at a certified laboratory.
2️⃣ DNA Extraction & Sequencing – Advanced NGS technology is used to analyze thyroid-related genes.
3️⃣ Bioinformatics Analysis – AI-driven tools identify genetic mutations linked to thyroid disorders.
4️⃣ Expert Genetic Review – A board-certified geneticist interprets the results.
5️⃣ Clinical Report & Consultation – A detailed report is sent to your physician for further guidance.

💡 Early Risk Detection – Helps predict thyroid disorders before symptoms appear
🔬 Personalized Treatment – Tailors medications and therapies based on genetic profile
👪 Family Risk Assessment – Determines hereditary thyroid disorder risks for relatives
🧑‍⚕️ Prevention & Early Intervention – Enables lifestyle changes and monitoring for at-risk individuals
📊 Guides Surgical & Treatment Decisions – Determines whether thyroidectomy or radiation therapy is needed

• Pathogenic Variant Identified – Confirms an inherited mutation linked to thyroid disorders.
• Likely Pathogenic Variant – Suggests a probable genetic risk, requiring clinical correlation.
• Variant of Uncertain Significance (VUS) – More research or family testing may be necessary.
• No Pathogenic Variants Detected – Does not eliminate risk, but lowers genetic predisposition probability.

Your physician may recommend:

• Increased screening (frequent TSH, T3/T4, thyroid ultrasound monitoring)
• Lifestyle modifications (iodine intake adjustments, dietary changes)
• Medication adjustments (e.g., dosing based on genetic metabolism)
• Family genetic counseling for at-risk relatives
• Thyroid surgery or targeted therapies for those at high risk of cancer

Most insurance providers cover genetic testing for medically necessary thyroid conditions, especially for individuals with a family history or early-onset thyroid dysfunction. Our team assists with pre-authorization, insurance claims, and financial assistance programs.

✔ Comprehensive Genetic Panels – Covers all major thyroid-related genes
✔ CLIA-Certified & CAP-Accredited Laboratory – Ensures high testing accuracy
✔ Fast Turnaround Time – Results available within 2-4 weeks
✔ Expert Genetic Counseling – Helps you interpret and act on results
✔ Advanced NGS Technology – High-depth genetic sequencing for precise analysis