Genetics specialists at NewYork-Presbyterian Hospital offer comprehensive services for children and adults with known or suspected genetic disorders, as well as their families. As more is uncovered about the genetic basis and new technologies are developed, genetic diagnosis and counseling become increasingly important for families and their healthcare providers.
We offer prenatal testing, including noninvasive blood and imaging tests as well as chorionic villus sampling (CVS) and amniocentesis. People may be referred for genetic evaluation before or during a pregnancy for a variety of reasons, such as advanced maternal age, abnormal screening results, a family history of a genetic condition, exposures during a pregnancy, or abnormal findings on a prenatal ultrasound.
We provide genetic testing and counseling for:
We provide genetic testing and counseling for adults diseases and disorders including:
After you schedule the initial appointment for you or your child, our administrative staff and genetic counselors will begin to gather and review medical records and medical history. Because the medical histories of our patients are often complex, we strive to be thorough and make your initial evaluation as productive as possible by gathering as much information as we can before you arrive for your first visit.
On the date of your visit, you will meet with a genetic counselor and a clinical geneticist who will review your child's and your family's histories and perform a physical exam. We will discuss diagnostic testing with you. We may collect the necessary blood, urine, or other samples on the day of your visit. Our staff also assists you in obtaining any necessary insurance authorizations for specialized genetic tests. We have access to the most advanced genetic testing available to arrive at a definitive diagnosis.
Based upon the results of our evaluation, we will tailor a personalized plan of care. We have exceptional experience coordinating the care of many people with rare genetic disorders. When necessary, we make referrals to specialists. If appropriate, we will identify research studies for your family and identify support groups you may find helpful. We continue to work closely with your doctors or your child's doctors, who will receive written reports and updates when our evaluation is completed. Our team is also available to counsel you about reproductive options if you are considering building your family.