What are the measure values for the test Muscular Dystrophy Gene Panel

• DMD gene deletion/duplication: Presence or absence of deletions or duplications in the DMD gene
• DMD gene sequencing: Sequence variants detected in the DMD gene
• DNAJB6 gene sequencing: Sequence variants detected in the DNAJB6 gene
• DYSF gene sequencing: Sequence variants detected in the DYSF gene
• LAMA2 gene sequencing: Sequence variants detected in the LAMA2 gene
• LMNA gene sequencing: Sequence variants detected in the LMNA gene
• SGCA gene sequencing: Sequence variants detected in the SGCA gene
• SGCB gene sequencing: Sequence variants detected in the SGCB gene
• SGCD gene sequencing: Sequence variants detected in the SGCD gene
• SGCG gene sequencing: Sequence variants detected in the SGCG gene

What does this test Muscular Dystrophy Gene Panel identify?

1. Duchenne Muscular Dystrophy (DMD) - This test can identify mutations in the DMD gene, which is responsible for causing Duchenne Muscular Dystrophy. DMD is a severe form of muscular dystrophy that primarily affects boys and causes progressive muscle weakness and wasting.
2. Becker Muscular Dystrophy (BMD) - Mutations in the DMD gene can also cause Becker Muscular Dystrophy, a milder form of the disease that typically has a later onset and slower progression than DMD.
3. Limb-Girdle Muscular Dystrophy (LGMD) - This panel can also identify mutations in genes associated with various subtypes of Limb-Girdle Muscular Dystrophy, a group of disorders that primarily affect the muscles of the hips and shoulders.
4. Facioscapulohumeral Muscular Dystrophy (FSHD) - Mutations in the DUX4 gene can cause Facioscapulohumeral Muscular Dystrophy, a condition characterized by progressive muscle weakness and wasting in the face, shoulders, and upper arms.
5. Myotonic Dystrophy - This test can identify mutations in the DMPK and CNBP genes, which are associated with Myotonic Dystrophy, a form of muscular dystrophy characterized by muscle stiffness and weakness, as well as other symptoms such as cataracts and heart problems.