This technology provides a DNA-based diagnostic method to determine the presence or the susceptibility of developing Facioscapulohumeral Dystrophy (FSHD) and also a method to treat FSHD.
Currently, the diagnostic test for FSHD1 requires pulse-field gel electrophoresis and Southern blotting to detect the contraction of the D4Z4 repeats, and there are no commercially available diagnostic tests for FSHD2. This invention provides an improved method for screening for the presence or risk of developing FSHD during pregnancy or after birth. Further, this method applies both to FSHD1 and FSHD2.
URV Reference Number: 6-2047