Pediatric Specialties — Genetics
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Services

The Division of Genetics offers a complete range of clinical and support services for infants, children, adolescents and adults with genetic disorders.

  • Cancer Genetic Services. Testing, assessment and counseling related to hereditary forms of cancer.
  • Clinical trials. Access to new and emerging therapies for genetic disorders.
  • Diagnosis and evaluation. A complete range of specialized diagnostic laboratory tests and other assessments, as well as dysmorphology/syndrome recognition.
  • Genetic counseling. Information about inheritance patterns, risks and support groups.
  • Infertility clinic. For male and female factors, conducted in collaboration with reproductive endocrinology and urology.
  • Lysosomal enzyme infusion therapy. New therapies are available for certain lisosomal storage diseases.
  • Management and clinical follow-up. Working closely with patients and families to develop a care plan and see it through.
  • Metabolic clinic. Helping infants and children with inborn errors of metabolism reach their potential growth and development. Comprehensive evaluation and education services followed by periodic cognitive and developmental evaluations, and other clinical care as needed.
  • New York State Newborn Screening Program for Metabolic Disorders. All newborns in the State of New York are screened for 54 rare genetic disorders through a tiny blood sample taken from the baby's heel shortly after birth. Each of these disorders can affect a baby within days or weeks after birth; early treatment can prevent or reduce the symptoms.
  • Nutritional services. Counseling provided by a metabolic nutritionist.
  • Other specialty clinics. Consultations for neurofibromatosis and neurocutaneous disorders.
  • Outpatient consultations. Evaluations of children with autism, birth defects, cancer, congenital hearing loss, craniofacial defects, cystic fibrosis, developmental delays, mental retardation and other possible disorders that may have a genetic basis. Consultations with other subspecialists also may be arranged as needed.
  • Prenatal and preimplantation genetic diagnosis. Screening and diagnosis of genetic disorders in fetuses prior to birth or in embryos prior to implantation by means of in vitro fertilization.