Overview

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.

Category

Cost

Lamin + Emerin $1000 (NGS panel)

Predictive testing $250 (targeted variant testing by Sanger sequencing)

Reporting time

8 - 12 weeks (Diagnostic)

4 - 6 weeks (Predictive)

Contacts

Dr Belinda Chong

Phone (03) 9936 6550

Specimen Requirements

EDTA blood: Adult: 2 x 5 ml

Child: 1-2 ml

Notes

Blood Storage Requirements: Do not freeze. Store at 4°C or room temperature.

Genes tested