Genetic disorders are individually rare, but when you add them up, they’re relatively common in pediatric neurology. They can underlie epilepsy, neuromuscular disease, stroke, autism, intellectual disability, inflammatory brain disease, white matter disease and movement disorders.
A molecular diagnosis can spare children from further unnecessary diagnostic testing and allows for anticipatory guidance. Test results can help guide family planning, and may allow for preimplantation genetic diagnosis if parents are pursuing in vitro fertilization (IVF). A genetic diagnosis can also directly affect therapy, as in inborn errors of metabolism and channelopathies for which treatments are already available.
When should you consider genetic testing, and where should you start?