The pediatric referral information on this page is also available as a flyer in pdf format. When to Refer to Genetics 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 General Referral Guidelines for Pediatric Indications 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. If your patient meets any of these criteria Talk to your patient and/or your patient’s family about recommendations for a genetics referral Emphasize the importance of making and keeping an appointment with a genetics provider For assistance locating the nearest genetics service provider in the New York Mid-Atlantic Caribbean Regional Genetics Network (NYMAC), go to Find a Genetics Clinic - NYMAC- Regional Genetics Network Guidelines and Recommendations The Professional Practice and Guidelines Committee of the American College of Medical Genetics and Genomics (ACMG) Indication for genetic referral: a guide for healthcare providers American Academy of Pediatrics NYMAC Genetics - When to Refer Pediatric Patients to Genetics Resources 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 Print