intellectual disability
The 285-gene panel tests for conditions associated with autism and intellectual disability and can be taken at home via a saliva swab.
ACMG Recommends Sequencing as Test for Children With Intellectual Disability, Congenital Anomalies
An American College of Medical Genetics and Genomics working group conducted a systematic review of the literature to develop its recommendation.
The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance.
In the long run, genome-wide DNA methylation profiling could be useful in diagnosing constitutional disorders as well as cancer.