Due to the growing demand of genetic testing for DMD and SMA in our region, we have been developing our human resources capabilities and infrastructure for DMD and SMA genetic testing. Our recent collaboration with expertise from overseas including several seminars, workshops and joint research also helped us to improve our capabilities regarding the genetic testing.
Duchenne Muscular Dystrophy (DMD)
The DMD gene is the largest known human gene, consisting of 79 exons spanning 2.2 Mb. The most identified mutations in DMD are deletions, responsible for approximately 60-65% of DMD and 85% of BMD mutations, while duplications were observed in 5-15% of DMD patients. The remaining maybe caused by small mutations including microdeletions, point mutations or splicing mutations. Therefore, in our institution we have developed our own pipeline on MLPA (Multiplex Ligation Probe Amplification) and multiplex polymerase chain reaction (PCR) analysis of DMD which can cover the copy number variant (deletion or duplication) of the DMD gene.