services and programs
Our genetics team collaborates with other specialists at the hospital to ensure that each child receives comprehensive, coordinated care. These specialists can include experts in neurosurgery, rehabilitation therapy, developmental medicine, psychology, neurology and many more.
general genetics clinic
We provide diagnosis and genetic counseling for children and adults with concerns about genetic disease, birth defect and/ or intellectual disability/developmental delay.
metabolic clinic
Our geneticists are board certified in biochemical genetics and work closely with our nurse and dietician to diagnose, treat and prevent metabolic disorders. Our services include:
- Follow-up for abnormal newborn screen - We provide definitive testing for abnormal newborn screening tests for inborn errors of metabolism and provide follow-up and treatment for children with conclusive diagnoses.
- We provide management of individuals with inborn errors of metabolism including supervision of metabolic diet with a metabolic dietician for:
- Amino acid disorders
- Fatty acid disorders
- Organic acid disorders
- Lysosomal storage disease
- Galactosemia
- Biotinidase deficiency
- Enzyme replacement infusion services for lysosomal storage diseases - We manage individuals with lysosomal storage disorders including treatment (enzyme replacement therapy, substrate reduction therapy), surveillance (associated comorbidities), and appropriate coordination of care for:
- Gaucher disease
- Fabry disease
- Mucopolysaccharidosis type I (Hurler syndrome), II (Hunter syndrome) and IV (Morquio syndrome)
- Glycogen storage disease Type II (Pompe syndrome)
connective tissue disorders
We provide diagnosis, genetic counseling, treatment and referral to related specialists for adults and children concerned about connective tissue disorders including:
- Osteogenesis imperfecta
- Marfan syndrome
- Loeys dietz syndrome
- Ehlers danlos syndrome
the cancer genetics program
We provide genetic counseling, risk assessment, genetic testing and support for patients with adult and pediatric cancers including:
- Hereditary breast ovarian cancer (HBOC)
- Lynch syndrome
- Familial adenomatous polyposis (FAP)
- Li-Fraumeni syndrome
- Hereditary retinoblastoma
- Hereditary pheochromocytoma paraganglioma
- Multiple endocrine neoplasia types I and II
- Von Hippel Lindau and other hereditary renal cancer syndromes
hereditary cardiovascular disease program
We provide genetic counseling, risk assessment, genetic testing and support for children and adults with hereditary cardiovascular diseases including:
- Hypertrophic cardiomyopathy (HCM) and other hereditary cardiomyopathies
- Hereditary arrhythmias including long QT syndrome
- Arrhythmogenic right ventricular dysplasia/cardiomyopathy
- Congenital heart defects
fetal to newborn care center
Specialists at Dayton Children’s work closely with physicians throughout our community to provide the best possible care for babies during pregnancy and in the early stages of life.
When problems are detected during pregnancy, comprehensive diagnosis and treatment is available through the Fetal to Newborn Care Center, The Center offers care coordination throughout pregnancy, advanced diagnostic testing, genetic counseling and advanced treatment during pregnancy and after birth. Many of our consults can be a virtual visit!
preconception risk assessment
We provide families with genetic counseling and risk assessment for personal or family histories suggestive of a genetic disorder.
multidisciplinary team clinics
Our team works closely to collaborate and provide seamless care for your child. We work with the following programs and clinics:
- Myelomeningoceal clinic
- Cleft clinic
- Hemophilia clinic
- Sickle cell clinic
- Long term follow up for childhood cancer survivors
- Neuro-oncology clinic
- Cystic fibrosis clinic
- Neurocutaneous clinic
- Neurofibromatosis
- Tuberous sclerosis
- Von Hippel Lindau
genetics laboratory services
- Molecular (DNA) testing-in house and send-out services
- Plasma amino acid quantification
- Chromosome testing (karyotype)
- Fluorescent in situ hybridization ( FISH)
- Chromosome microarray (CMA) testing
