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Golisano Children's Hospital / Pediatric Genetics / Inherited Metabolic Disease Specialty Center

Inherited Metabolic Disease Specialty Center

New York State Newborn Screening Follow up Treatment Center

We are one of only eight designated Metabolic Centers in New York State.

We serve as a designated follow-up treatment center for the New York State Newborn Screening Program for metabolic disorders. Newborn screening is a cooperative system of state labs, metabolic centers, primary care providers and parents working together to assure that all infants born in New York are screened for a panel of disorders including inborn errors of metabolism. Last year over 200,000 babies were screened.

Within 48 hours of birth, all babies are screened for more than 40 inborn errors of metabolism including the following:

A small sample of blood is taken from the heel of your baby and sent to New York State's Wadsworth Laboratory in Albany, NY. These tests ensure that timely referral and treatment will occur for your baby. Babies who test positive for these disorders are referred to the Inherited Metabolic Disease Specialty Center for evaluation (including a social history and physical exam) and further diagnostic testing.

If your child is diagnosed with a metabolic disease, one of our board-certified pediatric genetic and metabolic specialists will provide a treatment plan for your child's disorder. Each child receives a comprehensive evaluation for his or her special medical needs. In addition, we perform periodic cognitive and developmental evaluations of children referred from the Newborn Screening Program. Support services offered to these children and their families include:

  • Identifying resources concerning a particular disorder
  • Education about the disorder
  • Self-care training for patients and families

The Division of Pediatric Genetics works closely with the New York State Newborn Screening Program to ensure the provision of expert services for children.