EMERY-DREYFUSS MUSCULAR DYSTROPHY: CLINICAL EXOME PANEL (Sec. & CNVs) – 7 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Emery-Dreifuss Muscular Dystrophy Panel analyzes seven genes associated with an inherited neuromuscular disease characterized by early contractures (elbows, ankles, neck), progressive muscle weakness predominantly affecting the humerus and peroneal muscles, and cardiac involvement with a risk of arrhythmias and atrioventricular block. It can present with X-linked, autosomal dominant, or recessive inheritance, depending on the gene involved. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of mutations in genes related to the structure and function of the nuclear envelope and cytoskeleton, such as EMD (emerin), LMNA (lamin A/C), FHL1, SYNE1, SYNE2, TMEM43, and DMD, among others. Identifying the genetic cause allows for confirmation of the diagnosis, assessment of the risk of cardiac involvement, and the provision of genetic counseling and personalized follow-up care.
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