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.
Renal Cysts and Diabetes (RCAD)
The Renal Cysts And Diabetes (RCAD) syndrome is caused by heterozygous variants in the HNF1B gene.
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Restrictive Dermopathy
Restrictive Dermopathy (RD) is a rare autosomal recessive disorder characterised by intrauterine growth retardation, tight and rigid skin with prominent superficial vessels, joint contractures, bone mineralization defects, dysplastic clavicles, arthrogryposis and early neonatal death due to pulmonary hypoplasia and respiratory insufficiency.
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