GENETIC DIAGNOSTIC TOOL FOR FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY (FSHD)

摘要

Disclosed are compositions and methods for the diagnosis of Facioscapulohumeral muscular dystrophy (FSHD) using nanopore sequencing and CRISPR/Cas9 enrichment of D4Z4 containing sequences to determine the number of repeats in a D4Z repeat region and methyiation of the nucleotide bases in this region.