Clinical Genetics Services

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.

Prenatal Genetic Testing

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.

Pediatric Genetics

We provide genetic testing and counseling for:

• Autism
• Birth defects
• Cardiomyopathy
• Chromosomal disorders (Down syndrome, Klinefelter syndrome, Turner syndrome)
• Congenital diaphragmatic hernia
• Congenital heart disease
• Craniofacial disorders
• Cystic fibrosis
• Deafness
• Delay in development
• DiGeorge syndrome
• Dysmorphology
• Endocrine genetics, including specialized programs in diabetes and obesity
• Fragile X
• Growth problems
• Inherited arrhythmias and long QT syndrome
• Inherited liver disorders
• Inherited skin (dermatological) disorders
• Marfan syndrome
• Metabolic disorders
• Mitochondrial disorders
• Muscular dystrophy
• Neurofibromatosis (Center of Excellence)
• Osteogenesis imperfecta
• Pulmonary hypertension
• Seizures
• Sickle cell disease and thalassemia
• Spinal muscular atrophy
• Tuberous sclerosis
• Vascular anomalies

Adult Genetic Risk Assessment

We provide genetic testing and counseling for adults diseases and disorders including:

• Amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease)
• Cancer, including breast, ovarian, colon, pancreatic, adrenal, and renal (kidney) cancers and melanoma
• Cardiomyopathy
• Dementia
• Diabetes
• Hemochromatosis
• Huntington disease
• Inherited arrhythmias and long QT syndrome
• Muscular dystrophy
• Myotonic dystrophy
• Pulmonary hypertension
• Von Hippel Lindau disease (Center of Excellence)

What to Expect

Obtaining a Medical History

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.

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.

Planning Your Care

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.