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Genetic Disorders

Using a multidisciplinary approach, the Division of Genetic, Genomic and Metabolic Disorders at the Children’s Hospital of Michigan provides expert diagnosis, follow-up, treatment and counseling for infants, children and adults with genetic or suspected genetic disorders.   The Division is staffed by board-certified clinical geneticists, board-certified genetic counselors, specially trained nurses and nurse practitioners, dietitians, a social worker and a clinical psychologist. Faculty members are boarded in clinical genetics, biochemical genetics and molecular genetics.

In addition to providing diagnostic evaluations for individuals suspected of having a genetic condition and genetic counseling services for those identified with genetic conditions, there are numerous other programs operated by the Division of Genetic, Genomic and Metabolic Disorders.  It is home to a newborn screening long term follow-up and treatment program for individuals diagnosed with an inborn error of metabolism following a positive newborn screen.  The Children's Hospital of Michigan operates one of the few Lysosomal Storage Disease Clinics and Pediatric Enzyme Replacement Therapy (ERT) programs in Michigan treating children with lysosomal storage disorders and other genetic conditions treatable with enzyme replacement.  The Division has also developed a Fetal Alcohol Syndrome Clinic for the diagnosis and management of children affected from intrauterine alcohol exposure.   

Genetic Disorders Services

Genetic Disorder Services

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Genetic Disorder Specialists

Meet our genetics and metaboloic specialists.

Genetic, Genomic and Metabolic Disorders

The Children’s Hospital of Michigan is one of a few sites designated by the state of Michigan to provide diagnosis and follow-up for the Cystic Fibrosis newborn screening program.  Working closely with the Division of Pulmonary Medicine, the Division provides genetic counseling services to at risk families identified through newborn screening.  It also provides genetic counseling services for families followed through the Hemophilia Clinic through a collaboration with the Division of Hematology/Oncology.  Also in collaboration with the Division of Hematology/Oncology, the Division is also the only Pediatric Cancer Genetics clinic in the state.The Division works closely with the Detroit Medical Center (DMC) University Laboratories in molecular genetics, cytogenetics and biochemical genetics. The DMC is home to a biochemical genetics laboratory designated by the state of Michigan for the laboratory diagnosis, evaluation and long term monitoring for the newborn screening program.

The Division of Genetic, Genomic and Metabolic Disorders trains numerous students, residents and fellows from programs in the Metropoitan Detroit area and around the world.  It is a clinical rotation site for students from the Wayne State University Genetic Counseling Graduate Program.  Working with Wayne State University School of Medicine, it provides training and education for the combined Pediatric/Genetics Residency Program, the Medical Genetics Fellowship Program and is one of the few sites in the country offering a Medical Biochemical Genetics Fellowship program.

For further information or to schedule an appointment call (313) 745-KIDS or toll-free at (888) 362-2500.

Genetic Conditions & Treatments

The Division of Genetic, Genomic and Metabolic Disorders at the Children’s Hospital of Michigan evaluates infants, children and adults for diagnosis, genetic counseling and clinical management for a variety of reasons including but not limited to:
  • Developmental delay and/or mental retardation; autism
  • Inborn errors of metabolism
  • Lysosomal storage disorders
  • Skeletal dysplasias including Achondroplasia, Osteogenesis Imperfecta and others
  • Family history of genetic disorders
  • Known or suspected chromosomal disorders
    • Down syndrome
    • Turner syndrome
    • Trisomy 13 and 18
  • Single Gene Disorders
    • Autosomal dominant conditions
    • Autosomal recessive conditions
    • X-linked recessive conditions
    • X-linked dominant conditions
  • Birth defects
  • Fetal Alcohol Syndrome

Read our Genetic Disorder Testimonials

  • Genetics
  • Pulmonary

Emily's Cystic Fibrosis Story

  • Genetics
  • Sickle Cell

LaDiamond's Sickle Cell Story

  • Genetics
  • Pulmonary

Julia's Story

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