Clinical Genetic Disorders Program

Genetic disorders are varied and diverse. Many are also rare. The Clinical Genetic Disorders Program at Mount Sinai Health System specializes in the care of children, adults, and families with known or suspected genetic conditions.

Our multidisciplinary team consists of clinical geneticists (who have medical degrees), genetic counselors (each with a Masters in Science), support services, and other specialists. We collaborate with other medical specialists – cardiologists, plastic surgeons, Ear, Nose, and Throat specialists, speech pathologists, etc. – through special programs such as the Cardiovascular Genetics Program and the Craniofacial Disorders Program. We also work closely with specialized programs in our own Department, including the Program for Inherited Metabolic Diseases and the Lysosomal Storage Diseases Program.

A Genetics Evaluation is a specialized evaluation targeted at making the diagnosis of a genetic condition. The evaluation consists of a detailed medical and family history, review of medical records and previous tests, and a physical examination. At the end of the evaluation, further tests may be recommended. Examples of such tests are chromosome analysis or DNA mutation analysis. These are generally performed on a small blood sample. Many new tests are now available to geneticists to identify specific changes in the genetic material.

The benefits of making a specific diagnosis are many and can include the following:

  • Unnecessary expense and tests can be avoided in the future.
  • A focused approach to management will be possible.
  • Healthcare can be individualized.
  • Genetic counseling can be provided with regard to future pregnancies.
  • Support groups and resources can be provided

Who Should Be Seen for a Genetics Evaluation?

Symptoms of genetic conditions or syndromes can include early hypotonia (low muscle tone), developmental delays, growth problems, an unusual appearance, or birth defects.

Examples of conditions that may lead to a referral to the Clinical Genetic Disorders Program:

  • Congenital anomalies: congenital heart defects, hand, foot and limb anomalies, kidney anomalies
  • Craniofacial disorders: cleft lip/palate, craniosynostosis (a condition in which one or more of the fibrous sutures in an infant skull prematurely fuses), unusual facial appearance
  • Developmental disabilities: Global developmental delay, mental retardation/intellectual disability, autism spectrum disorders, fragile X syndrome
  • Cardiovascular genetics: congenital heart defects, Marfan syndrome, Ehlers Danlos syndrome, Noonan syndrome and allied disorders, genetic cardiac arrhythmias, hereditary hemorrhagic telangiectasia
  • Neurogenetics: Neurofibromatosis, Rett syndrome, hereditary ataxias, movement disorders
  • Other known or suspected genetic disorders or syndromes , including hearing loss, visual problems or skin disorders

Insurance Information

Our doctors accept most major insurance plans. Testing will be coordinated, as far as possible, through insurance plans.

Contact Us

To schedule an appointment, please call 212-241-6947.

Contact Us

schedule an appointment

Tel: 212-241-6947
Fax: 212-860-3316

The Mount Sinai Health System
1428 Madison Ave (at 99th Street)
Atran Building, 1st Floor
New York, NY 10029

Mailing Address:
Division of Medical Genetics
Department of Genetics and Genomic Sciences
One Gustave L. Levy Place
Box 1497
New York, NY 10029-6574

9am to 5pm, Monday through Friday

For billing questions, please call:
Tel. 212-987-3100

Related Resource

Clinical Genetics Referral Form [PDF]