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Our Clinical Genetic Services

Doctors at NYU Langone’s Clinical Genetic Services provide the most advanced, compassionate care for people interested in all types of genetic counseling and testing. 

We offer:

  • medical genetics evaluations that can identify and guide treatment of childhood and adult disorders, whether or not they are hereditary
  • reproductive genetic counseling to pinpoint the cause of an abnormality and help determine your chances of conceiving a baby without that abnormality
  • carrier testing that makes it possible to identify people whose children may be at increased risk for certain inherited conditions
  • complete genetic consultation for adults diagnosed with or at risk for hereditary cancer syndromes

If you have been referred for genetic evaluation, you may have questions about the appointment and what tests you may have to take. Our goal is to provide you with an exact diagnosis. 

We share with you whatever is known about the condition, the cause or pattern of how it is inherited, and the course of the condition. We advise you on treatment options, including preventive measures and testing recommendations, and offer you information about support groups and educational opportunities to learn more about the condition.

We may provide you with ongoing care or refer you to another specialist. We provide your referring physician with a detailed letter from our team summarizing your evaluation. Your records and diagnosis are not released to anyone else, nor are they discussed with an individual or group unless you give us specific permission in writing. That includes other family members, professionals from other institutions, and insurance companies.

We encourage you to discuss anything that relates to your experience of having a child with a specific condition, your concern about having a hereditary condition yourself, or anything else that may help you feel more comfortable about your particular situation. 

Genetics Evaluation

You may have been referred to us for a genetic evaluation for a number of reasons, including:

  • Your child may have been born with a physical problem and the cause must be determined, or you may have been referred for possible prenatal diagnosis.
  • Your child may not be developing either physically or mentally as expected for his or her age.
  • You may have a condition that is suspected of being hereditary, or you may have a history of a hereditary condition in your family and want to know about its nature, the possibility for treatment, and the risk to other family members.

Some evaluations can be completed in one session; some may require two or more. The entire evaluation may take anywhere from one day to several months. The number of sessions depends on the type of problem and the complexity of the evaluation. 

Your initial session can be expected to last one to two hours and subsequent visits are usually shorter. We also offer three sessions a week for clinical genetic evaluations and genetic counseling at NYU Langone’s Center for Children.

We start your genetic evaluation by getting a detailed family health and medical history and, if appropriate, perform a physical examination. For some patients, it may be important to examine other family members as well. We may recommend tests such as blood analyses and X-rays—though not all patients require tests—and a consultation with other specialists for the most thorough evaluation. 

Our program is in-network with many medical insurance plans, so please ask when you make your appointment. Most medical insurance plans cover genetic testing, but call your provider to make sure. We are able to get preauthorization for genetic testing under most circumstances—we do not begin testing until we’ve verified that it is covered by your insurance provider.

Reproductive Genetic Counseling

Some reasons you may have been referred for reproductive genetic counseling include:

  • You may have an increased chance of conceiving a fetus with physical or mental abnormalities based on your age, personal or family history, an abnormal test result, or exposure to drugs or toxins (teratogens).
  • Abnormalities may have been identified unexpectedly in your unborn child by ultrasound.
  • You may have a history of infertility or recurrent pregnancy losses.

It is important for you to come prepared to talk with us about your personal, medical, and family history. Usually these consultations can be completed in one session, though some may require two or more.

Though not all patients require tests as part of their evaluation, we may offer tests such as amniocentesis, chorionic villus sampling (a biopsy of the placenta), sonography, blood analyses, and possibly a consultation with other specialists to assist in the evaluation. In some situations, it may be important to examine other family members as well. 

The cost and fees for these services differ among individual patients, depending on the complexity of the evaluation and how many sessions are required to complete the consultation. Sometimes we are unable to determine the exact fee ahead of time because we cannot predict how much time is required for your visit. Additional recommended tests are charged separately. 

If you do not have health insurance or are unable to pay for these services or tests, we can try to work out an alternative arrangement with you.

Carrier Testing

Through carrier testing of you and your partner, it is possible to determine whether there is an increased chance for your children to have an inherited condition, such as cystic fibrosis. 

Testing is usually done with a small blood sample or sometimes saliva. The results of carrier testing are usually available within two to three weeks after the specimen is collected. If you are found to be a carrier, a genetic counselor calls you with the results. Your test results are also sent to your physician if you request us to do so. If you want to talk to a genetic counselor, you may do so at any time. 

If you and your partner are carriers and decide to have a child, the disease status of the baby can be learned before birth by using prenatal diagnosis, which involves testing a small sample of placenta taken between 10 and 12 weeks of pregnancy, or testing a sample of amniotic fluid taken between 14 and 20 weeks of pregnancy. (The length of a pregnancy is usually 40 weeks.) 

Genetic testing is done on these samples to learn whether the baby has the disease, is a carrier like the parents, or is not a carrier. 

A pre-pregnancy procedure, known as preimplantation genetic diagnosis (PGD), allows for the genetic testing of embryos for women who may have higher odds of passing on a genetic disorder to their child and who are using in vitro fertilization (IVF).  

PGD is performed by taking a few cells from each fertilized egg before implantation to test for the presence of genes that are linked to genetic disorders. Only the embryos that test negative for those genes are transfer to the mother. 

Although the chance of passing on the condition is significantly reduced, there is still a small margin of error. You should discuss this procedure with your genetic counselor and a fertility expert.