Duchenne/Becker Muscular Dystrophy (DMD) Sequencing

Casandra

Casandra Test Code AR14695Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2011153CPT Code 81408

Duchenne/Becker Muscular Dystrophy (DMD) Sequencing

Also known as: DMD SEQ

Clinical Use

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Use

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked disorders characterized by muscle weakness and progressive deterioration. Symptoms typically begin in childhood for DMD with more severe progression and later onset and slower progression for BMD. Genetic testing for DMD sequencing is essential for diagnosing these conditions, managing patient care, and enabling genetic counseling. This test targets coding regions and exon-intron junctions of the DMD gene, and it can identify pathogenic variants that are causative for DMD/BMD, thus influencing therapeutic strategies and family planning.

Special Instructions

This test is intended for use when previous DMD gene deletion/duplication testing has not identified a causative variant. Consent for genetic testing is recommended, and specific history forms and informed consent forms, especially for New York patients, may be required. Specimens from New York must be sent to state-approved labs. Counseling and informed consent are recommended for all genetic testing procedures.

Limitations

This sequencing test does not detect all types of variants that could cause DMD/BMD, such as those in regulatory regions, deep intronic variants, or somatic variants. It can only identify variants within the coding regions and exon-intron boundaries. Variants larger than 10 base pairs might be detected with reduced sensitivity. Technical limitations such as the presence of pseudogenes or homologous regions may also prevent the detection of some variants. A negative result does not completely exclude a heritable form of muscular dystrophy. Interpretation may be impacted by factors such as rare sequence variations and previous stem cell transplantation.

Test Details