High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis.
Russell J ButterfieldCarina ImburgiaKatie MayneTara NewcombDiane M DunnBrett DuvalMarcia L FeldkampNicholas E JohnsonRobert B WeissPublished in: Molecular genetics & genomic medicine (2021)
We demonstrate that robust detection of expanded CTG repeats in a single tube can be achieved from samples derived from specimens with minimal template DNA such as dried blood spots (DBS). This technique is readily adaptable to large-scale testing programs such as population studies and newborn screening programs.