Genetic testing to establish a genetic diagnosis of a mitochondrial disorder may be considered medically necessary when signs and symptoms of a mitochondrial disorder are present and genetic testing may eliminate the need for muscle biopsy.
Targeted genetic testing for a known familial variant in at-risk relatives may be considered medically necessary as preconceptional carrier testing under the following conditions (see Benefit Application section):
There is a defined mitochondrial disorder in the family of sufficient severity to cause impairment of quality of life or functional status; AND
A variant that is known to be pathogenic for that specific mitochondrial disorder has been identified in the index case.
Genetic testing for mitochondrial disorders is considered investigational in all other situations when the criteria for medical necessity are not met.
