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Adults with genetic disorders are a remarkable and growing population of patients. They are also underserved. Despite genetic testing being routine for many childhood-onset disorders, testing adults is not a standard practice. As a result, many adults are living with undiagnosed genetic diseases. Some are symptomatic with an inaccurate diagnosis, while many struggle to receive any diagnosis at all. Others may be asymptomatic (without symptoms) or pre-symptomatic (not having symptoms [...]

Did you know that genetic conditions are estimated to affect 5 to 10% of the general population? Unfortunately, even as genetic medical care has become increasingly affordable and accessible, most patients, primary care physicians, and specialists are unaware of the red flags that signal it’s time to seek genetic testing and support. As a diagnostic genetics practice for adults, SequenceMD provides care for patients with rare conditions and unique medical needs, [...]