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.
Partial Lipodystrophy
Familial Partial Lipodystrophy (FPLD) is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
Find out more
Phaeochromocytoma and Paraganglioma
Phaeochromocytomas are neural crest-derived tumours of the adrenal medulla, which result in the hypersecretion of catecholamines.
Find out more
Pituitary Hormone Deficiency
Combined pituitary hormone deficiency (CPHD) is defined as the impaired production of anterior pituitary hormones affecting at least two anterior pituitary hormone lineages.
Find out more
Primary Pigmented Nodular Adrenocortical Disease
Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with corticotrophin (ACTH)-independent Cushing’s syndrome (CS) and is characterized by small to normal-sized adrenal glands containing multiple small cortical pigmented nodules.
Find out more