id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-013854-wadpugbj	Fratter, Carl	EMQN best practice guidelines for genetic testing in dystrophinopathies	2020-05-18		.txt	text/plain	12725	536	38	Since whole-exon deletions or duplications are the predominant type of pathogenic variant in the DMD gene (~78%; Table 1 ), an initial screen which detects the majority of these copy number variations (CNVs) should be the first diagnostic test offered (refer to Genetic testing strategy section and Fig. 1 ). In patients with an ascertained clinical diagnosis of dystrophinopathy but no CNVs or small variants identified, RNA-based methods offer a valuable tool with a high likelihood of being able to detect variants that escape detection using level 1 and 2 DNA approaches, such as complex rearrangements or deep intronic variants leading to pseudo-exon insertion or cryptic splice site recognition in the mature transcripts. If a pathogenic DMD variant is not identified by analysis for whole-exon deletions and duplications or after DMD gene sequencing, then in some cases alternative diagnoses should be considered, depending on the available clinical evidence and test results.	./cache/cord-013854-wadpugbj.txt	./txt/cord-013854-wadpugbj.txt