Genetic Testing and Counseling

Our patients and their families can count on the Division of Clinical Genetics at Joe DiMaggio Children’s Hospital and Memorial Regional Hospital for comprehensive assessment and treatment of genetic disorders and birth defects. We help diagnose genetic disorders in both children and adults, and provide appropriate treatment or referrals based on each patient’s needs. Genetic testing is a very complex process, and patients should be evaluated by a clinical geneticist who understands how genetic testing works and how to interpret the test results.

Our team of genetic professionals includes:

  • Board-certified clinical geneticists
  • A board-certified genetic counselor
  • A registered dietitian specializing in metabolic conditions

Our team works together to provide genetic evaluation, counseling and health management services to patients of all ages – from pregnant women and newborns to seniors.

Genetic Counseling

The results of genetic testing can seem overwhelming and confusing. Our board-certified genetic counselor explains genetic testing results in a way that is easy to understand. The counselor will discuss recurrence risks and inheritance patterns, which can be important for families considering future pregnancies.

You will likely see a genetic counselor if you have:

  • A personal or family history of a genetic disorder
  • A child with a genetic disorder or birth defect
  • Ultrasound or screening test results suggesting a genetic disorder

Genetic Conditions

Our genetic testing can help identify a cause for the following disorders:

  • Developmental delay/intellectual disability
  • Autism spectrum disorders
  • Learning disability
  • Birth defects
  • Chromosomal anomalies (i.e. Down syndrome, Turner syndrome, trisomy 13, trisomy 18)
  • Microdeletion/microduplication syndromes
  • Neuromuscular disorders
  • Cardiomyopathies
  • Failure to thrive or growth retardation
  • Obesity
  • Hearing loss
  • Seizures
  • Marfan syndrome and other connective tissue disorders
  • Prader-Willi syndrome and Angelman syndrome
  • Prenatal drug or alcohol exposure
  • Inborn errors of metabolism
  • Family history of a genetic disorder
  • Preconception (family planning)
  • Metabolic disorders

In addition to general genetics services, the Division of Clinical Genetics offers specialty clinics for Marfan syndrome, craniofacial conditions and patients with 22q deletion syndrome.

Contact Us

To schedule an appointment or learn more about genetic testing and counseling, call 855-588-1650.

Meet our Team of Pediatric Genetics Specialists

Related Physicians