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.
Carney complex
Carney complex is an autosomal dominant multiple neoplasia syndrome characterised by cardiac, endocrine, cutaneous, and neural myxomatous tumours, as well as a variety of pigmented lesions of the skin and mucosae.
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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL )
CADASIL is an autosomal dominantly inherited disorder characterised by five main clinical features which include migraine with aura, subcortical ischaemic events, mood disturbances, apathy and cognitive impairment.
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Congenital adrenal hyperplasia (CAH)
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that result in impaired hormone production from the adrenal glands.
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Congenital adrenal hypoplasia
Congenital Adrenal Hypoplasia (also known as Adrenal Hypoplasia Congenita, AHC) is a rare cause of primary adrenocortical failure.
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