Genetic testing for genes associated with limb-girdle muscular dystrophy to confirm a diagnosis of limb-girdle muscular dystrophy may be considered medically necessary when signs and symptoms of limb-girdle muscular dystrophy are present but a definitive diagnosis cannot be made without genetic testing, and when at least one of the following criteria are met:
Results of testing may lead to changes in clinical management that improve outcomes (eg, confirming or excluding the need for cardiac surveillance); OR
Genetic testing will allow the affected individual to avoid invasive testing, including muscle biopsy.
Genetic testing for genes associated with limb-girdle muscular dystrophy in the reproductive setting may be considered medically necessary when:
There is a diagnosis of limb-girdle muscular dystrophy in one or both of the parents, AND
Results of testing will allow informed reproductive decision making.
Targeted genetic testing for a known familial variant associated with limb-girdle muscular dystrophy may be considered medically necessary in an asymptomatic individual to determine future risk of disease when the following criteria are met:
The individual has a close (ie, first- or second-degree) relative with a known familial variant consistent with limb-girdle muscular dystrophy, AND
Results of testing will lead to changes in clinical management (eg, confirming or excluding the need for cardiac surveillance).
Genetic testing for genes associated with limb-girdle muscular dystrophy may be considered medically necessary in an asymptomatic individual to determine future risk of disease when the following criteria are met:
The individual has a close (ie, first- or second-degree) relative diagnosed with limb-girdle muscular dystrophy whose genetic status is unavailable, AND
Results of testing will lead to changes in clinical management (eg, confirming or excluding the need for cardiac surveillance).
Genetic testing for genes associated with limb-girdle muscular dystrophy is considered investigational in all other situations.
