Article
Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison.
Clinical biochemistry - 1 Jul 2020
Mattman Andre, Gilfix Brian M, Chen Sharon Xuehui, DeMarco Mari L, Kyle Barry D, Parker Michelle L, Agbor Terence A, Jung Benjamin, Selvarajah Shamini, Barakauskas Vilte E, Vaags Andrea K, Estey Mathew P, Nelson Tanya N, Speevak Marsha D
Abstract excerpt
BACKGROUND: Laboratory confirmation of alpha-1-antitrypsin (A1AT) deficiency may be achieved by multiple methods. Here, we compare the relative comprehensiveness and efficiency of pathogenic variant (PV) detection of four different protocols utilized at different diagnostic centres in Canada. METHODS: Diagnostic results from 2011 to 2018 at clinical laboratories in British Columbia (BC), Alberta (AB), Ontario...
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