Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Most affected individuals experience joint deformities called contractures, slowly progressive muscle weakness and wasting, beginning in muscles of the upper arms and lower legs and progressing to muscles in the shoulders and hips. Mutations in the Emerin (EMD) and Lamin (LMNA) genes cause of X-linked and autosomal dominant Emery-Dreifuss muscular dystrophy.
Lamin + Emerin $1000 (NGS panel)
Predictive testing $250 (targeted variant testing by Sanger sequencing)
8 - 12 weeks (Diagnostic)
4 - 6 weeks (Predictive)
Dr Belinda Chong
Phone (03) 9936 6550
EDTA blood: Adult: 2 x 5 ml
Child: 1-2 ml
Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.