Our Clinical Genetics team collaborates with other Johns Hopkins All Children’s physicians across specialties to provide comprehensive treatment to children with a genetic condition.
Update: We are now offering telemedicine appointments with the Genetics program, for the health and safety of our patients while coronavirus (COVID-19) is present in Florida. For appointment scheduling, please call 727-767-8491.
The Clinical Genetics program at Johns Hopkins All Children’s Hospital provides comprehensive evaluation and medical management to guide the treatment of children with a genetic condition.
We provide genetic counseling, testing and follow-up care for patients with a range of genetic and metabolic genetic conditions. We treat children of all ages, from newborn to age 21, and can assist our patients in transitioning to adult care when appropriate.
Genetics testing can help to answer the “why” behind your child’s condition. This helps us to guide your child’s treatment and plan for their future medical needs. We coordinate directly with your child’s primary care physician on treatment recommendations and any necessary referrals, depending on your child’s condition.
For children and families with a genetic condition, genetic testing also enables us to determine the likelihood that other children within the family also will be affected by the condition.
Types of testing performed in the genetics program include chromosomal, metabolic, DNA testing, and whole exome sequencing, depending on the needs of the individual patient.
The genetics program includes multidisciplinary clinics:
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22q Deletion (DiGeorge) Syndrome Clinic
We bring together a team of specialists to provide holistic care for patients newborn to 21 years old with 22q deletion syndrome in one specialty clinic.
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Cardio-Genetics Clinic
The Cardio-Genetics Clinic treats patients with genetic cardiac conditions such as congenital heart disease, connective tissue disorders and cardiomyopathies.
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Neurocutaneous Disorders Clinic
The Neurocutaneous Disorders Clinic treats patients with genetic conditions affecting the nerves and skin, such as neurofibromatosis and tuberous sclerosis.
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Turner Syndrome Clinic
Children with Turner syndrome receive comprehensive care from a team of experts in specialties that include endocrinology, cardiology, genetics and others.
Conditions we treat include:
- Alagille syndrome
- Amino acid disorders
- Beckwith-Wiedemann syndrome
- Carbohydrate disorders
- Congenital disorders of glycosylation (CDG)
- Congenital heart disease
- Cornelia de Lange syndrome
- Epidermolysis bullosa
- Fatty acid oxidation disorders
- Friedreich's ataxia
- Hemihyperplasia
- Lysosomal storage disorders
- Marfan and Loeys-Dietz syndromes
- Neurofibromatosis
- Noonan syndrome
- Organic acidemias
- Peroxisomal disorders
- Prader-Willi and Angelman syndromes
- Primary mitochondrial diseases
- Skeletal dysplasias
- Tuberous sclerosis
- Turner syndrome
- Urea cycle disorders
- Williams syndrome
- 22q11.2 deletion and duplication syndromes
Visiting our Practice
Patients are seen by referral only and must be accompanied by a parent or legal guardian during office visits. Occasionally, it is impossible for a parent to attend. If that happens, the parent must give written permission for medical treatment in their absence.
If this is your first appointment, our office will send you several medical history forms and other paperwork through the MyChart Patient Portal that must be completed and brought along with you on the day of your appointment. If you are unable to bring these completed forms, please ensure that you arrive at least 30 minutes before your scheduled appointment so you have time to complete them in our office. For return appointments, please arrive at least 15 minutes before your appointment to complete the necessary paperwork.
As a courtesy, our office will call to confirm each appointment. If you must cancel this appointment, please call the office at least 48 hours in advance of your appointment date. Patients arriving greater than 15 minutes late for their scheduled appointment time may not be seen that day.
Patient Appointment Paperwork
Please complete the appropriate paperwork prior to your appointment:
For telemedicine and phone appointments please upload to the patient portal, for onsite appointments please bring completed paperwork to your appointment.
Johns Hopkins All Children's Hospital Genetics
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