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.