How many FH genetic tests were performed by the UK Genetic Laboratory Hubs in 2022?

Autor: S.E. Humphries, R. Challis, K. Downes, E. Howard, T. Legerton, C. Macanulty, S. Morgan, A. O’Rouke, D. O’Sullivan, A. Taylor-Beadling, E. Thompson, E. Watson, G. Norbury

Publikováno v: Atherosclerosis Plus, Vol 54, Iss , Pp S9- (2023)

Externí odkaz: https://doaj.org/article/12a1e74bf6e341a9a76116c59a36b2f1

Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD).

Autor: Hague J; Departments of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Casey R; Departments of Diabetes and Endocrinology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge, UK., Bruty J; Departments of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Legerton T; Departments of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Abbs S; Departments of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Oddy S; Department of Clinical Biochemistry, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Powlson AS; Departments of Diabetes and Endocrinology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Majeed M; Departments of Diabetes and Endocrinology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Gurnell M; Departments of Diabetes and Endocrinology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Park SM; Departments of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Simpson H; Department of Diabetes and Endocrinology, UCLH NHS Foundation Trust, London, UK.

Publikováno v: Endocrinology, diabetes & metabolism case reports [Endocrinol Diabetes Metab Case Rep] 2018 Feb 09; Vol. 2018. Date of Electronic Publication: 2018 Feb 09 (Print Publication: 2018).