Genetic Testing for Duchenne and Becker Muscular Dystrophy (2.04.86)
Summary
Genetic testing for DMD gene variants may be considered medically necessary in males with signs and symptoms of a dystrophinopathy to confirm the diagnosis and direct treatment, in at-risk female relatives to confirm or exclude the need for cardiac surveillance or for preconception testing, and in at-risk male offspring to confirm or exclude the need for medical and cardiac surveillance. At-risk females are first- and second-degree female relatives, including the proband's mother, female siblings, female offspring, and the proband's maternal grandmother and maternal aunts, and at-risk males are asymptomatic male offspring of a female carrier or asymptomatic male siblings of an individual with a DMD-associated dystrophinopathy. Genetic testing for DMD gene variants is considered investigational in all other situations.
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