Viapath’s Porphyria Laboratory, headed by Dr Joanne Marsden, is one of only two Supraregional Assay Service (SAS) designated laboratories in the UK offering diagnosis of rare porphyria disorders.
A newly published book chapter by Joo Wook Ahn & Caroline Ogilvie, members of the Genetics Laboratories, on the Context and Applications of Targeted Genetic Testing, with Emphasis on Copy Number Variants.
Waterman CA, Batestone P, Bown N, Cresswell L, Delmege C, English CA, Fewes G, Grimsley L, Imrie S, Kalkarni A, Mann K, Johnson R, Morgan SM, Roberts P, Simonic I, Trueman S, Wall M, McMullan D
