Genetic testing for the diagnosis of Fanconi anemia may be considered medically necessary when the following criteria are met:
Clinical signs and symptoms of Fanconi anemia are present; AND
A definitive diagnosis of Fanconi anemia cannot be made after standard workup, ie, nondiagnostic results on chromosome breakage analysis.
Genetic testing for the diagnosis of Fanconi anemia is considered investigational when the above criteria are not met.
Genetic testing of asymptomatic individuals to determine future risk of disease may be considered medically necessary when there is a first-degree relative with a documented diagnosis of Fanconi anemia (see Policy Guidelines).
Genetic testing for Fanconi anemia is considered investigational in all other situations.
