Duchenne Muscular Dystrophy (DMD) is a prevalent X-linked recessive neuromuscular disorder primarily affecting children. It results from mutations in the DMD gene, preventing the production of functional dystrophin, a critical protein for skeletal muscle contraction.
First Genomix employs Multiplex ligation-dependent probe amplification (MLPA) to detect substantial deletions or duplications in the dystrophin gene.
For females with male family members affected by DMD, it is important to assess their carrier status to prevent the transmission of the disease to future generations. A genetic diagnosis of DMD in affected males can be obtained by analyzing the DNA in the dystrophin gene for large deletion/duplication mutations. An accurate diagnosis of the condition enables clinicians to make better decisions regarding medical care for those patients.
Results are generally reported as follows:
