This page provides information about non-NHS funded tests offered by the South West Genomic Medicine Service. These tests are typically requested by healthcare providers from outside the NHS, including international clients, devolved UK nations, and private healthcare providers. If you were looking for information about NHS-funded tests instead, please go back to Request a test to view NHS Tests.
Familial glucocorticoid deficiency (FGD)
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease caused by ACTH resistance and leads to isolated glucocorticoid deficiency.
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Familial hyperparathyroidism
Primary hyperparathyroidism is characterised by hypercalcaemia, inappropriately high parathyroid hormone (PTH) levels and isolated parathyroid tumours.
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Familial hypocalciuric hypercalcaemia
Familial hypocalciuric hypercalcaemia is a genetic condition caused by variants in the CASR gene that results in lifelong elevated calcium levels.
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Familial isolated hypoparathyroidism
Hypoparathyroidism is characterised by hypocalcemia and hyperphosphatemia due to inadequate supply or effectiveness of circulating parathyroid hormone (PTH).
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