Genomics, the study of all your child’s genes, can reveal incredible insights into medical conditions and allow us to create a treatment plan that’s tailored to your child — including which medicines and therapies may work best.
AdventHealth for Children is the only children's hospital to offer rapid and ultra-rapid whole genome sequencing to Central Florida families. We also provide testing and management options for genetic conditions, so you can understand your child’s unique needs and help them live healthier.
AdventHealth Medical Group Genomics and Personalized Health at Orlando
Formerly known as AdventHealth Medical Group Medical Genetics at Orlando
Find the right pediatric geneticist or location that’s convenient for you.
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.
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
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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Precision medicine and precision therapies are the most active areas of therapeutic clinical research in medicine today. Based on the your child's disease being treated, there are many new precision medicine therapies that are available.
For example, patients born with metabolic disorders are treated with the disease specific dietary restrictions, enzyme replacement therapy, substrate reduction therapy, bone marrow transplantation or gene therapy.
CRISPR Based Gene Therapy
We provide therapies that focuses on genetically modifying cells to produce a therapeutic effect. Ultimately this therapy treats the condition by repairing the defective gene, leading to healing for your little one.
Novel Investigational Therapies
Examples of novel investigational therapies include:
Stimulators of “NO-sGC-cGMP signaling pathway” for various neurological and non-neurological diseases
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 and Genomics
Have expertise in Clinical Genetics; Biochemical Genetics and Newborn Screening; Cytogenetics
Have experience with clinical trials for genetic disorders
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Rapid whole genome sequencing is crucial to understanding rare genetic diseases. That's why AdventHealth for Children partners with Rady Children’s Institute for Genomic Medicine to offer more families access to a state-of-the-art genome sequencing lab and leading experts. Together, we're diagnosing, understanding and treating some of the rarest conditions.
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