DMD Deletion/Duplication (Prenatal Diagnosis)

Clinical Use

Use

The DMD Deletion/Duplication Analysis (Prenatal Diagnosis) is performed to identify pathogenic deletions and duplications associated with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and DMD-associated dilated cardiomyopathy (DCM). These conditions, known as dystrophinopathies, primarily impact skeletal and cardiac muscles. The presentation of these diseases varies based on the inherited variant. DMD is the most severe form, mainly affecting male children, leading to delayed motor skills in early childhood and wheelchair dependence by adolescence. Conversely, BMD shows milder symptoms and a slower progression with cardiomyopathy risks in adulthood. The analysis serves pregnant patients with known variants or family histories of DMD/BMD. Genetic counseling prior to sample submission is required.

Special Instructions

Referring centers should consult with laboratory genetic counselors prior to submitting samples for prenatal cases. Contact 1-800-411-4363 for guidance on sample submission.

Limitations

The test is designed to detect only the most common pathogenic deletions and duplications in the DMD gene; it may not identify all possible alterations. Additionally, results may vary based on timing and quality of the sample collected. It's crucial to ensure sufficient DNA quantity and concentration to yield accurate results. In cases of low-quality samples, test reliability may be compromised. Patients with complex genetic backgrounds may also face limitations in interpretating results correctly. Therefore, results should be evaluated alongside clinical history and other diagnostic information.

Test Details