Nicklaus Children’s Hospital this month has launched a new clinic dedicated to assisting families seeking answers for a child with a rare or undiagnosed disease. The Undiagnosed Disease Clinic, which occurs monthly, offers the latest genetic testing technologies for eligible patients.
“For some families of children with rare diseases, the search for a diagnosis can be a prolonged and often frustrating experience,” said Dr. Parul Jayakar, Director of Clinical Genetics and Metabolism. “These families may have already visited multiple specialists and undergone a variety of tests in hopes of finding answers. The Undiagnosed Disease Clinic is dedicated to helping such families identify the genetic condition affecting their child in hopes it leads to diagnosis and treatment.”
The clinic has access to new genetic testing technologies, including whole genome sequencing and metabolomics. These new technologies make possible the detection of genetic alterations that are not typically identified by more common clinical genetic tests.
Candidates for the clinic usually have two or more of the following characteristics.
- Inborn anomalies (differences) of the heart, kidneys, brain, hands, feet or any other parts of the body.
- A lab test that suggests a genetic disease, such as an abnormal newborn screen, or suggesting the body is having trouble processing certain foods or substances.
- Abnormal response to standard therapy, or unusual presentations of certain medical conditions.
- Low muscle tone (hypotonia).
- Seizure disorders that do not respond to medication or require multiple medications.
- Undiagnosed neurodevelopmental conditions, including difficulties with language and speech, motor skills, behavior, memory, learning or other neurological functions.
- Abnormal growth parameters, including height, weight or head size (too big, too small for their age and gender).
- Have visited a genetic specialist and undergone standard clinical genetic tests, without a diagnosis.
Families who wish to have their child considered for the clinic should schedule an appointment with a Nicklaus Children’s Pediatric Specialists genetics provider by calling 786-624-4741.
The clinical team will request the patient’s medical records and results of any tests previously performed that relate to current symptoms. Once all information is received, the genetics specialists will discuss the case and determine if new testing offerings may reveal a diagnosis. Families will then be contacted about scheduling an appointment or may be offered other genetic screening options.
The clinic is exclusively for those still pending a diagnosis. When a diagnosis is determined, children will be referred to appropriate specialists for consideration of future treatment opportunities.
For more information, visit our Undiagnosed Disease Clinic page.
About Nicklaus Children's Hospital, Where Your Child Matters Most ™ (2025)
For 75 years, Nicklaus Children's has stood as a beacon of hope for children and families across the state of Florida and beyond. Nicklaus Children's Hospital is South Florida's #1 nonprofit, freestanding specialty licensed hospital exclusively for children serving close to 70 percent of children in the Miami metropolitan community. In addition, Nicklaus Children's offers care within NCH North Hospital in Naples, Jupiter Medical Center's De George Pediatric Unit and select Baptist Health Hospital pediatric emergency units. The hospital and its network of more of nearly 35 outpatient care locations offer lifesaving care in in Miami-Dade, Broward, Martin, and Palm Beach counties. These outpatient locations include an array of urgent care, pediatric primary care, and subspecialty care centers and are either hospital-based or outpatient locations under Nicklaus Children's Pediatric Specialists, LLC (NCPS). Providing a pipeline of future physicians and groundbreaking research, Nicklaus Children's is an academic and clinical affiliate of Florida International University Herbert Wertheim College of Medicine. Nicklaus Children's is home to centers of excellence including the Helen & Jacob Shaham Cancer & Blood Disorders Institute, the Nicklaus Children's Orthopedics, Sports Health and Spine Institute, Nicklaus Children's Neuroscience Institute and Nicklaus Children's Heart Institute. The 325-bed hospital is renowned for excellence in all aspects of pediatric medicine, with many programs routinely ranked among the nation's best by U.S. News & World Report since 2008. Nicklaus Children's also includes a nonprofit physician practice subsidiary with over 40 specialties, and an ambulatory surgery center.