Duchenne muscular dystrophy (DMD)

Duchenne muscular dystrophy (DMD) is one of the most severe forms of inherited muscular dystrophies. It is the most common hereditary neuromuscular disease and does not exhibit a predilection for any race or ethnic group. Mutations in the dystrophin gene lead to progressive muscle fiber degeneration and weakness. This test is for detection of deletions or duplications in the DMD gene in genomic DNA isolated from human peripheral whole blood specimens, cultured amniotic fluid obtained in week 16 of the pregnancy or later and free from blood contamination, cultured chorionic villi free from maternal contamination.

5-7 business days

EDTA blood, amniotic fluid, CVS