Standard whole exome sequencing, with trio testing when possible (see Policy Guidelines), may be considered medically necessary for the evaluation of unexplained congenital or neurodevelopmental disorders in children when ALL of the following criteria are met:
Documentation that the individual has been evaluated by a clinician with expertise in clinical genetics, including at minimum a family history and phenotype description, and counseled about the potential risks of genetic testing.
There is potential for a change in management and clinical outcome for the individual being tested.
A genetic etiology is considered the most likely explanation for the phenotype despite previous genetic testing (eg, chromosomal microarray analysis and/or targeted single-gene testing), OR when previous genetic testing has failed to yield a diagnosis, and the affected individual is faced with invasive procedures or testing as the next diagnostic step (eg, muscle biopsy).
Rapid whole exome sequencing or rapid whole genome sequencing, with trio testing when possible (see Policy Guidelines), may be considered medically necessary for the evaluation of critically ill infants in neonatal or pediatric intensive care with a suspected genetic disorder of unknown etiology when BOTH of the following criteria are met:
At least one of the following criteria is met:
Multiple congenital anomalies (see Policy Guidelines);
An abnormal laboratory test or clinical features suggests a genetic disease or complex metabolic phenotype (see Policy Guidelines);
An abnormal response to standard therapy for a major underlying condition.
None of the following criteria apply regarding the reason for admission to intensive care:
An infection with normal response to therapy;
Isolated prematurity;
Isolated unconjugated hyperbilirubinemia;
Hypoxic Ischemic Encephalopathy;
Confirmed genetic diagnosis explains illness;
Isolated Transient Neonatal Tachypnea; or
Nonviable neonates.
Whole exome sequencing is considered investigational for the diagnosis of genetic disorders in all other situations.
Repeat whole exome sequencing for the diagnosis of genetic disorders, including re-analysis of previous test results, is considered investigational.
Whole genome sequencing is considered investigational for the diagnosis of genetic disorders in all other situations.
Whole exome sequencing and whole genome sequencing are considered investigational for screening for genetic disorders.
