The clinic offers the latest genetic testing technologies for pediatric patients still searching for a diagnosis, according to an April 11 news release. The genetic testing options include whole genome sequencing and metabolomics. They can detect genetic alterations that are not typically identified in more common clinical genetic tests.
“For some families of children with rare diseases, the search for a diagnosis can be a prolonged and often frustrating experience,” Parul Jayakar, MD, director of clinical genetics and metabolism at Nicklaus Children’s, said in the release. “These families may have already visited multiple specialists and undergone a variety of tests in hopes of finding answers. The Undiagnosed Diseases Clinic is dedicated to helping such families identify the genetic condition affecting their child in hopes it leads to diagnosis and treatment.”
The clinic is only for those pending a diagnosis. Once the child’s diagnosis is determined, they will be referred to appropriate specialists for treatment.
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