The pediatric referral information on this page is also available as a flyer in pdf format.

  • Genetic risk assessment and testing can be helpful in aiding in the care of individuals with a personal or family history of genetic conditions.
  • Some genetic conditions are inherited through either males or females, while others can be inherited through both males and females.
  • Those with an unknown or limited family history can still be referred to genetics for evaluation.
  • Genetic test results can:
    • Impact treatment and management recommendations
    • Inform unaffected individuals of possible future risks to themselves or future children
    • Guide appropriate screenings

A genetics evaluation should be considered for individuals with any of the following:

  • A known genetic pathogenic variant/mutation identified in an individual or family member
  • A known or suspected genetic disorder, birth defect, or chromosomal abnormality
  • A newborn with any of the following:
    • Abnormal newborn screening test result
    • Congenital hypotonia or hypertonia
    • Unexplained intrauterine growth retardation
  • A newborn, infant, or child with any of the following:
    • A single major anomaly, or multiple major and/or minor anomalies
    • Dysmorphic features that are not familial
    • Failure to thrive
    • A known metabolic disorder or symptoms of a metabolic disorder (Note: A normal newborn screening result does not rule out all metabolic disorders)
    • Abnormal brain MRI findings
    • Unusual growth patterns
    • Evidence of a connective tissue disorder
    • Congenital eye defects or blindness
    • Significant hearing loss or deafness
    • Cardiomyopathy not secondary to a viral infection
    • > 6 café-au-lait macules at least 0.5 cm in diameter
    • Unusual skin findings such as multiple types of lesions, multiple lipomas, numerous hypo– or hyperpigmented lesions, or albinism
    • Bilateral or multifocal malignancies
  • A child with:
    • Developmental delay
    • Intellectual disability
    • Autism Spectrum Disorders
    • Immunodeficiency
    • Progressive muscle weakness

Full referral guidelines are referenced at the bottom of this page. If you are concerned about a patient’s personal or family history, a genetics professional can help determine if further risk assessment and/or genetic testing is indicated.

National Society of Genetic Counselors (NSGC) Find a Genetic Counselor  | A tool developed by NSGC for patients and providers to locate genetic counseling services in North America (U.S. and Canada)

Baby’s First Test  | A website providing information about newborn screening and resources for families caring for a child with a genetic condition

GeneReviews through the NIH  | Resource for providers about the diagnosis and management of patients with genetic conditions

Contact Us

NYMAC Administrative Office

124 Front Street
Binghamton, NY 13905


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