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.
The DMD test is recommended for the following conditions:
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:
