Congenital hypothyroidism is characterized by thyroid hormone deficiency presenting in the neonatal period or early infancy and is commonly identified through newborn screening. Genetic causes may involve abnormalities of thyroid development, thyroid hormone synthesis, hypothalamic-pituitary regulation, or thyroid hormone transport and action.

This panel includes genes associated with the major genetic causes of congenital hypothyroidism, including thyroid dysgenesis, dyshormonogenesis, central hypothyroidism, and disorders of thyroid hormone transport or action.

This panel is recommended particularly for patients with central congenital hypothyroidism, familial thyroid dysgenesis, suspected dyshormonogenesis, or congenital hypothyroidism accompanied by syndromic or extra-thyroidal features.