Johns Hopkins All Children's Hospital

Genetics

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. 

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 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 two multidisciplinary clinics:

Our team includes a board-certified clinical geneticist and board-certified genetic counselors. We work closely with other medical specialists at Johns Hopkins All Children’s Hospital and in the Gulf Coast region to assist with management and treatment of any medical problems that a child may experience as a consequence of his or her underlying genetic condition.
 

Cardiac-Genetics Clinic

The Cardiac-Genetics Clinic treats patients with genetic cardiac conditions such as congenital heart disease, connective tissue disorders and cardiomyopathies.

Neurocutaneous Disorders Clinic

The Neurocutaneous Disorders Clinic treats patients with genetic conditions affecting the nerves and skin, such as neurofibromatosis and tuberous sclerosis.

Conditions we treat include:

  • Alagille syndrome
  • Beckwith-Wiedemann syndrome
  • Congenital disorders of glycosylation (CDG)
  • Congenital heart disease
  • Cornelia de Lange syndrome
  • Epidermolysis bullosa
  • Friedreich's ataxia
  • Hemihyperplasia
  • Marfan and Loeys-Dietz syndromes
  • Neurofibromatosis
  • Noonan syndrome
  • Prader-Willi and Angelman syndromes
  • Skeletal dysplasias
  • Tuberous sclerosis
  • Turner syndrome
  • 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 mail several medical history forms and other paperwork 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 727-767-8491 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.

For information or to schedule an appointment, please call us at 727-767-8491.

 

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727-767-8491

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