Hypoparathyroidism Panel

Hypoparathyroidism is a rare condition in which the body secretes abnormally low levels of parathyroid hormone (PTH). PTH is responsible for regulation and maintenance of calcium and phosphorus in the body. The predominant clinical features of hypoparathyroidism are related to hypocalcemia. Acute episodes of hypocalcemia can lead to neuromuscular irritability, tingling and numbness of the mouth and extremities, muscle spasms and seizures. Individuals with chronic hypocalcemia may be asymptomatic. Other manifestations of hypoparathyroidism and hypocalcemia are premature cataracts, calcifications of the basal ganglia, impaired cardiac function, mental retardation and/or personality disorders. The most common cause of hypoparathyroidism is surgical resection or autoimmune destruction of the parathyroid. Iron overload of the parathyroid glands in patients with thalassaemia is another common cause of decreased parathyroid function. In rare cases, hypoparathyroidism is caused by an underlying genetic disorder. Identification of the etiology of hypoparathyroidism can aid in guiding clinical management of affected patients. This panel includes sequence and deletion/duplication analysis of the listed genes.