Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.

Sarah Jane BeecroftKyle S YauRichard J N AllcockKym MinaRebecca GoodingFathimath FaizVanessa J AtkinsonCheryl WisePadma SivadoraiDaniel TrajanoskiNina KresojeRoyston OngRachael M DuffMacarena Cabrera-SerranoKristen J NowakNicholas PachterGianina RavenscroftPhillipa J LamontMark R DavisNigel G Laing

Published in: Annals of clinical and translational neurology (2020)

A comprehensive targeted diagnostic panel was an effective method for neuromuscular disease diagnosis within the context of an Australasian referral center. Use of smaller disease-specific panels would have precluded diagnosis in many patients and increased cost. Analysis through a centralized laboratory facilitated detection of recurrent, but under-recognized pathogenic variants.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
primary care
peritoneal dialysis
drug delivery
sensitive detection
real time pcr
genome wide analysis