Pediatric Genetic Testing

Ochsner genetic experts serve many people with different needs. While some patients are referred to us by a pediatrician or another physician, other patients know of their risk for a genetic condition based on their family’s medical history. After meeting with our team, patients may choose to receive genetic testing to help them make important life decisions. Genetic testing can also help determine how an unborn baby could be affected by either parent’s health or even more about a diagnosed genetic disorder.

Genetic testing can help patients understand their risk level for certain genetic syndromes, such as rare cancers that are tied to specific genes or other genetic differences. A genetic evaluation can help patients lower their risk for developing health problems later in life or gain peace of mind by eliminating a genetic health risk. Genetic testing can also assist physicians in choosing therapies that are effective against some forms of cancer.

At Ochsner, children, adults and caregivers receive specialized care in an environment devoted to top health through education, mutual understanding and collaboration. Our genetic counselors and medical geneticists offer thorough visits to learn your goals, respond to your concerns and share information you may need to make healthcare choices. An accurate genetic diagnosis can help you or a family member manage a condition, improve and maintain the best health and avoid health complications.

• Before your first appointment, send any genetic testing records or relevant clinical notes to the Ochsner Genetics Clinic. If this is not possible, please bring medical records with you.

• Make notes to capture everything you know about your family’s medical history.

• Allow one to two hours for your first appointment.

• In most cases, you begin by meeting with a genetic counselor who will interview you and your child. Immediately afterward, you will meet with a genetic physician who may ask additional questions, perform a physical exam and get to know you and your child. Together, you will create a plan of care.

• Genetic tests are typically conducted with either a simple blood test or cheek swab.

• After you are tested and your genetic physicians and counselors review your results, you will have a follow-up appointment to explain the results and learn how they relate to your health. Follow-up visits may last 30 minutes to an hour.

Many people are referred to Ochsner by a primary care physician or a pediatrician who suggests genetic testing based on the patient’s family history, symptoms linked to genetic conditions or known differences that have been present since birth. We then talk with your physicians about your genetic testing and results. You can also depend on us to coordinate referrals to other specialists at Ochsner and beyond.

If, for example, a genetic condition is detected in your unborn child during prenatal genetic testing, we work with Ochsner obstetricians, including maternal fetal medicine specialists who plan your unborn child’s birth and care for you during pregnancy.

The Ochsner Genetics Clinic is located at the Ochsner Health Center for Children - New Orleans. Our genetic expertise is also available at the Ochsner Cleft Lip and Palate Craniofacial Clinic and the Ochsner Down Syndrome Clinic at Michael R. Boh Center for Child Development. For certain kinds of care, virtual appointments may be arranged.

A medical geneticist uses medical history, family history and physical examination findings, in addition to genetic testing, to identify unique gene changes passed through families that may cause genetic disorders and birth abnormalities. They help people understand inherited health conditions and recommend healthcare subspecialists who can manage or treat physical, emotional, social or intellectual disabilities linked to genetic conditions.

When a child is born with a genetic condition or birth defect that affects well-being and growth, a geneticist can diagnose it accurately. Geneticists and genetic counselors give emotional support and lead families to healthcare and educational resources that help children develop from birth through adulthood.