The First Step in Family Planning
Duchenne Muscular Dystrophy (DMD) is an inherited X-linked neuromuscular disorder caused by mutations in the DMD gene, resulting in the absence or deficiency of dystrophin, a protein essential for normal muscle function.
Genetic testing plays a critical role in identifying the underlying mutation responsible for DMD and in helping to reduce the risk of transmission to future generations through informed reproductive planning.
Approximately 70% of Duchenne Muscular Dystrophy (DMD) cases are caused by large deletions in the DMD gene, while approximately 15% result from duplications. At our center, MLPA analysis is performed to accurately and simultaneously detect these disease-causing genomic alterations.
Feature | Details |
Method | MLPA/NGS |
Coverage | DMD gene |
Sample Requirement | Blood (EDTA Tube) |
Turnaround Time (TAT) | 2-3 Weeks |
*For a detailed sample collection, please contact our team.
19 Mayıs Mah. Çoruh Sok. No:32/1 Fulya, 34394 Şişli / Istanbul, Turkey
Monday - Friday 09:00 - 18:00 Saturday 09:00 - 14:00