Clinical Genetic Disorders Program
Genetic disorders are diverse and rare. At the Clinical Genetic Disorders Program, we specialize in the care of children and adults with known or suspected genetic conditions.
Our team consists of physician geneticists and genetic counselors. We work 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 Adult Genetic Program; 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, tests may be recommended. Examples of such tests are chromosome analysis or DNA mutation analysis. These are generally performed on a small blood sample. New genomic tests are now available to identify changes in the genetic material that may be the cause of a disorder or syndrome. The ability to make a diagnosis has improved markedly.
The benefits of obtaining a specific genetic diagnosis include: better medical management, avoiding any future unnecessary tests and expenses, genetic counseling for future pregnancies and access to support groups and resources.
Who should be seen for a genetics evaluation: Symptoms of genetic conditions or syndromes can include early hypotonia, developmental delays, growth problems, an unusual appearance or birth defects.
Reasons for referral include:
- 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, intellectual disability, autism spectrum disorders, fragile X syndrome
- Neurogenetics: Neurofibromatosis, Rett syndrome, hereditary ataxias, movement disorders
- Other known or suspected genetic disorders or syndromes , including hearing loss, visual problems, growth or skin disorders
Insurance Information
We accept most major commercial insurance plans. Testing will be coordinated, as far as possible, through insurance plans.
Adult Genetic Program
Mount Sinai’s Adult Genetic Program cares for adults (over age 18) who have a known or suspected genetic condition. Our team includes medical geneticists, genetic counselors, medicine subspecialists and other medical specialists, such as neurologists. We also partner with other genetics programs at Mount Sinai, including the Program for Inherited Metabolic Diseases and the Lysosomal Storage Diseases Program.
Who We Help
Our patients are referred to us when they have a known or suspected genetic condition. Some conditions our patients have include:
- Ataxia or other movement disorders
- Dementia
- Chromosomal disorders
- Chronic kidney disease
- Endocrine disease, such as hyperparathyroidism, diabetes, or premature ovarian failure
- Intellectual disability
- Vascular malformations
Services We Offer
When you visit our program, the first thing we’ll do is complete an in-depth genetics evaluation. This means we will ask you questions about your medical history, as well as your family’s medical history. We will also review your medical records and tests and perform a physical exam. If we need more information, we may recommend additional tests, including genetic testing. This usually involves taking a small amount of blood and sending it to a lab for testing. Tests might include a chromosome analysis, DNA sequencing, or another test that can identify changes in your genetic material that could cause a disorder or syndrome.
Once we have all the information we need, we will work with you to create a care plan that meets your health needs and goals. The services we provide include:
- Explaining and discussing the results of all of your genetic testing
- Developing a plan for how we will monitor your health
- Providing or ordering any screening tests you may need
- Sending you to any specialist you may need (such as a gastroenterologist, oncologist, or surgeon)
- Providing you with educational materials
- Connecting you with any clinical trials that might be helpful
- Referring you to support groups or other resources
If a diagnosis is made, we can also discuss how the condition is passed on and review family-planning options.
