Medical Genetics Program
Physicians' Office Building
725 Irving Avenue
Syracuse, NY 13210
Map & directions
Phone: 315 464-6395
Fax: 315 464-6398
The Medical Genetics Program provides genetic evaluations and consultations for adults and children. These include a review of medical and family information, examination by a geneticist, testing to establish or confirm a diagnosis and discussion with the family about the disorder, inherited pattern and options to manage the condition.
Referrals for genetic evaluation occur for many reasons, including unusual physical features or growth patterns, abnormalities present at birth, developmental delay or other unexplained findings.
Tests and Procedures
Tests can often resolve uncertainty about genetic risks and confirm a diagnosis. For most patients, testing involves taking only a blood sample. A few tests involve taking hair, skin, or other tissue samples.Tests may include:
- Biochemical genetic testing
- Next generation sequencing
- Chromosome analysis
- Chromosomal microarray analysis
- FISH analysis
- Diagnostic radiology
- Skin biopsy
- Confirmation of abnormal newborn screen
- Parental and carrier genetic testing
Resources for Patients and Families
- March of Dimes: The primary purpose of this organization is to save the lives of babies who face premature birth, birth defects, genetic disorders, as well as other diseases that can occur in infancy. The website offers information on a wide range of conditions, as well as timely news artices.
- National Organization for Rare Disorders: This national organization is an advocate for patients with rare disorders, promoting and fund raising for research and providing information to the government and medical community.
- Online Mendelien Inheritance in Man (OMM): Sponsored by the National Institutes of Health, this website provides an online catalog of human genes and genetic disorders. Primarily for the use of physicians and researchers, patients and the general public can also access basic information.
- Wadsworth: New York State department of Health, Wadsworth Center: Newborn Screening Program – New York screens every baby born in the state for over 40 different disorders. Information on each of these disorders is listed on their website.