Services cover birth defects, inborn errors of metabolism and biochemical genetic disorders, inherited diseases, chromosomal abnormalities, cancer genetic disorders, and autism/intellectual disability. Divisional services include diagnostic evaluation to identify genetic diseases; genetic counseling; biochemical laboratory diagnostic testing including GC/MS and HPLC and dietary management; molecular and DNA diagnostics including chromosomal microarray, Fragile X DNA testing, DNA sequencing, and methylation analyses; and subspecialist referral. Learn more about pediatric genetic testing at C.S. Mott Children's Hospital.
The Medical Genetics Residency Program, which is based in our Division in the Department of Pediatrics, utilizes combined clinical genetics services, basic science research, and education programs of six Medical School departments. The primary goals are Board Certification in Medical Genetics and preparation for a clinical or research career in academic genetics. We also offer combined training in Pediatrics and Medical Genetics. Training leading to Board Certification in Clinical Cytogenetics, Clinical Biochemical Genetics or Clinical Molecular Genetics is also offered.
NORD Center of Excellence
Health equity and access to care are critical for patients with all types of diseases, including rare diseases. We are proud to be designated by the National Organization of Rare Disorders (NORD) as a Center of Excellence. Through this partnership, we are just one of 40 U.S. academic medical centers dedicated to diagnosing, treating, and researching all rare diseases.
The network is led by the National Organization for Rare Disorders (NORD) and is designed to foster knowledge sharing between rare disease experts across the country to help meet the unmet needs of more than 25 million Americans living with a rare disease.
For more information about the NORD Rare Disease Centers of Excellence Program, visit their website.
Contact Phone Numbers
General Information: 734-764-0579
Division of Pediatric Genetics, Metabolism and Genomic Medicine
1500 East Medical Center Drive
D5240 MPB/Box 5718
Ann Arbor, MI 48109-5718