Services and Programs
Pediatric Genetics
Inherited Metabolic Disease Specialty Center
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 the following
inborn errors of metabolism:
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Did You Know…
We are one of only eight designated
Metabolic Centers in New York State.
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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/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:
The Division of Pediatric Genetics works closely with the New
York State Newborn Screening Program to ensure the provision of
expert services for children.
