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Our Clinical Genetic Services

We offer medical genetic evaluations that can identify and guide referrals for treatment of childhood and adult genetic disorders, many of which are not hereditary. A healthcare provider’s referral is required before an evaluation. Some of the most common evaluations we perform include the following:

Adults

  • Charcot-Marie Tooth disease
  • dystonia
  • hearing loss
  • hypercalcemia and hyperparathyroidism
  • hypercholesterolemia
  • hypophosphatasia
  • maturity-onset diabetes of the young (MODY)
  • polycystic kidney disease (PCK)
  • retinal disorders
  • tuberous sclerosis complex (TSC)

Children

  • albinism
  • autism
  • chromosome abnormalities
  • congenital heart diseases
  • development delay
  • hearing loss
  • kidney and urinary tract disorders
  • microcephaly
  • Noonan syndrome
  • seizure disorders
  • short stature

What to Expect from Our Services

If you or your child has been referred for a genetic evaluation, you may have questions about the appointment and what the evaluation involves. Our goal is to provide you with an exact diagnosis. This process usually includes an intake by a genetic counselor, a review of records, a clinical examination, and genetic tests.

Our team includes physicians, genetic counselors, and administrative staff. We partner with you through the process and share with you whatever is known about the diagnosis, including the cause, the inheritance pattern, 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 ongoing 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 anyone else 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 these:

  • Your child was born with a physical abnormality, and the cause must be determined.
  • Your child is not developing either physically or mentally as expected for his or her age.
  • You have a condition that is suspected of being hereditary, or you 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 about one hour, and subsequent visits are usually shorter.

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. Not all patients require tests, but we may recommend blood analyses, buccal (cheek) swabs, and X-rays 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. Although most medical insurance plans cover genetic testing, we recommend calling your insurance provider to confirm.

Genetic Services We Do Not Offer

The clinical genetics team does not provide testing or consultation for the following:

Contact Us

To learn more about our clinical genetic services, please call 646-754-2222.

For genetic counseling related to preconception, pregnancy, and carrier screening results, please call Maternal–Fetal Medicine at NYU Langone Obstetrics and Gynecology Associates at 646-754-2700.

To reach the High-Risk 鶹Ƶapp Genetics Program at Perlmutter 鶹Ƶapp Center, please call 646-754-1376.