dystrophin gene

How Are Dystrophin Gene Mutations Diagnosed?

Diagnosis usually begins with clinical evaluation and family history. Blood tests may reveal elevated CK levels, suggesting muscle damage. Genetic testing, including DNA sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA), can confirm the presence of mutations in the dystrophin gene. Prenatal testing and carrier screening are also available for families with a known history of dystrophinopathies.

Frequently asked queries:

Partnered Content Networks

Relevant Topics