Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1.

Glenn E PalomakiGlenn E PalomakiMadhuri Hegde

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

This review of laboratory performance regarding laboratory-developed genetic tests indicates very high performance for both the analytic and interpretative challenges for DM1.Genet Med 18 12, 1290-1294.

Keyphrases

quality improvement
genome wide
type diabetes
copy number
gene expression
single molecule
skeletal muscle
adipose tissue
muscular dystrophy