Father and son playing soccer.

Discover How Genomics Can Help Your Child

AdventHealth for Children is dedicated to the advancement of pediatric genomics.  We are proud to be the only children's hospital to offer rapid and ultra-rapid whole genome sequencing to Central Florida families. This specific type of testing will help critically ill babies and children in intensive care with unexplained medical conditions receive appropriate care.

We also provide a full range of testing and management options for various genetic conditions.  Our goal is to help families understand their child’s unique needs and give them the tools to live a long, healthy life.

 

We’re here to help you find the right physician or a location that’s convenient for you.

Michael- Genomics Patient

Genomics Testing Saved My Son's Life

At 3 months old, weighing only 9lbs, Michael's parents knew something was wrong. Listen to their heartfelt story as they take you through a story of hope, navigating the ups and downs of their son's healthcare journey.

One of a Kind Pediatric Care

Caring for Genetic Disorders and Metabolic Conditions

AdventHealth for Children provides genetic testing and management for children with a known or suspected inherited metabolic disorders. Our team of experts work together to provide genetic counseling and education about your child's condition in addition to medication and strategies for life-long management.

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Conditions and Treatments

The following genetic testing is available to support newborn screenings, and diagnosis and ongoing treatment of metabolic disorders:

  • Acylcarnitine
  • Biotinidase
  • Carnitine Plasma and Urine
  • CSF Amino Acids
  • Hereditary Fructose Intolerance
  • Homocysteine
  • Lactate
  • Plasma Amino Acids
  • Plasma Carnitine
  • Pyruvate
  • Urine Organic Acids
  • Urine Succinylacetone

Meet the Team

Patients at AdventHealth for Children can be referred to participate in genomic testing with our team of care experts, including physicians who:

  • Are board certified by the American Board of Medical Genetics & Genomics
  • Have expertise in Clinical Genetics; Biochemical Genetics & Newborn Screening; Cytogenetics
  • Have experience with clinical trials for genetic disorders
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Partnership is in our DNA

Rapid Whole Genome Sequencing

AdventHealth for Children is the first and only children's hospital in Central Florida to provide rapid whole genome sequencing, an advanced diagnostic technology, that will rapidly identify the causes of rare genetic disorders in some of the sickest infants and children. 

Through a partnership with Rady Children’s Institute for Genomic Medicine, we are able to have access to a state-of-the-art genome sequencing lab that employs a multi-disciplinary team of experts who specialize in providing timely and accurate guidance to physicians caring for children with rare genetic disease. This partnership is the latest in AdventHealth's investment in genomics and will change the future of healthcare.

Genomics is the future of medicine. This advanced testing can have a significant impact on how we diagnose and treat patients,. Rady Children’s Institute is a leader in genomic medicine, and this partnership will help us provide the best care to some of the littlest and sickest patients in our care.” - Dr. Rajan Wadhawan, Senior Executive Officer, AdventHealth for Children.