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

Abstract：

OBJECTIVE:To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center. METHODS:We designed two iterations of a comprehensive targeted gene panel for neuromuscular disorders. Version 1 included 336 genes, which was increased to 464 genes in Version 2. Both panels used TargetSeqTM probe-based hybridization for target enrichment followed by Ion Torrent sequencing. Targeted high-coverage sequencing and analysis was performed on 2249 neurology patients from Australia and New Zealand (1054 Version 1, 1195 Version 2) from 2012 to 2015. No selection criteria were used other than referral from a suitable medical specialist (e.g., neurologist or clinical geneticist). Patients were classified into 15 clinical categories based on the clinical diagnosis from the referring clinician. RESULTS:Six hundred and sixty-five patients received a genetic diagnosis (30%). Diagnosed patients were significantly younger that undiagnosed patients (26.4 and 32.5 years, respectively; P = 4.6326E-9). The diagnostic success varied markedly between disease categories. Pathogenic variants in 10 genes explained 38% of the disease burden. Unexpected phenotypic expansions were discovered in multiple cases. Triage of unsolved cases for research exome testing led to the discovery of six new disease genes. INTERPRETATION: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.

journal_name

Ann Clin Transl Neurol

journal_title

Annals of clinical and translational neurology

authors

Beecroft SJ,Yau KS,Allcock RJN,Mina K,Gooding R,Faiz F,Atkinson VJ,Wise C,Sivadorai P,Trajanoski D,Kresoje N,Ong R,Duff RM,Cabrera-Serrano M,Nowak KJ,Pachter N,Ravenscroft G,Lamont PJ,Davis MR,Laing NG

doi

10.1002/acn3.51002

subject

Has Abstract

pub_date

2020-03-01 00:00:00

pages

353-362

issue

3

issn

2328-9503

journal_volume

7

pub_type

杂志文章

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