The Pediatric Genetics Clinic provides care for children and adolescents with known or suspected genetic conditions. Our team consists of geneticists, genetic counselors, nurse practitioners, and other specialists. Our providers work together to evaluate patients, explain testing options, and create personalized care plans. We work with patients and families to help them understand and manage genetic conditions by providing compassionate care and guidance every step of the way. 

Schedule an appointment by calling us at 734-764-0579. Please fax all new patient referrals to 734-763-6561.

We offer a wide range of services, including:

• Diagnostic evaluation to identify genetic conditions
• Genetic counseling for patients and families
• Biochemical testing and dietary management strategies
• Molecular and DNA diagnostic testing (chromosomal microarray, Fragile X testing, methylation analysis, and DNA sequencing, including exome and genome sequencing)
• Referrals to subspecialists as needed
• Opportunities to participate in clinical trials

In addition to caring for patients with known or suspected genetic conditions, we support individuals and families who have concerns about their genetic risks. Our experts assess risk, explain testing options, deliver compassionate counseling, and connect families with outside resources.

Conditions

• Autism
• Congenital Anomalies (medical conditions present at birth)
• Genetic conditions of the heart
• Craniofacial conditions (conditions that affect the formation of the face and skull)
• Delays in development
• Down syndrome
• Ehlers-Danlos, Osteogenesis Imperfecta, and Marfan Syndromes (disorders of connective tissue that affect skin, joints, and bones)
• Fragile X syndrome (inherited mental impairment)
• Hypotonia (low muscle tone)
• Inborn errors of metabolism (genetic conditions that affect how the body processes food)
• Lysosomal storage disorders (genetic conditions that cause a build up of materials in the cells of the body, such as Pompe disease and Cystinosis)
• Neurofibromatosis (nervous system condition that can affect the skin and bones)
• Skeletal and limb abnormalities (conditions that affect bones, joints, or the structure of the arms and legs)
• Urogenital malformations (conditions that affect the formation of the urinary system or genitalia)

Programs

• Neurogenetics Program (Pediatrics)
• Newborn Screening Program
• Outreach Clinics
• Rare Disease Therapeutics Program (Pediatrics)
• Undiagnosed Disease Clinic

Multi-Disciplinary Clinics

• Arterial Dysplasia Program
• Biochemical Genetics Clinic
• Craniofacial Clinic
• Disorders of Sexual Development Clinic
• Epilepsy Genetics Clinic
• Fragile X Syndrome Multi-Disciplinary Clinic
• Hearing Loss Clinic
• Immuno-Hematology Clinic
• Lysosomal Storage Disorders Clinic
• Neuromuscular Genetics Clinic
• Osteogenesis Imperfecta Clinic
• Ophthygenetics Clinic
• Pompe Disease Clinic
• Rasopathy Clinic
• Single Ventricle Clinic
• Trisomy Clinic
• Turner Syndrome Clinic