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.