The Medical Genetics Department evaluates children and adults with many types of medical and genetic conditions. We provide complete care, including testing, and genetic counseling for patients diagnosed with common as well as rare genetic conditions.
The genetics team will often use special tests to help diagnose a medical condition. Our genetic specialists will work with you to determine the appropriate test. The results of genetic tests are not always straightforward, but our physicians and genetic counselors use their expertise and experience to explain the results in the most comprehensive and approachable way possible.
Tests may include:
- Chromosome analysis or microarray testing
- Fragile X testing
- Single gene or multiple gene panels
- Whole exome or whole genome sequencing
- Imaging such as a CT scan, MRI, X-ray, or ultrasound
Conditions we evaluate
We provide evaluation and treatment for a wide range of conditions, including:
- Autism spectrum disorders
- Beckwith-Wiedemann syndrome/hemihyperplasia
- Birth defects
- Chromosome disorders
- Developmental delays
- Fetal alcohol syndrome
- Genetic skin disorders
- Hypermobility conditions (patients between the ages of 10 and 21 only)
- Intellectual disabilities
- Marfan syndrome
- Multiple café au lait spots/neurofibromatosis
- Muscle disorders
- Rare genetic disorders
- Skeletal dysplasias
Related programs
We work closely with the following programs:
- Genetic Counseling Clinic: Our genetic counselors in the clinic provide information and support to families with members who have genetic disorders or who may be at risk for inherited conditions.
- Reproductive Genetics Program: Specialists in the Reproductive Genetics Program help couples navigate concerns about current or future pregnancies. The program is also available to patients whose pregnancy team has recommended a consultation.
- Familial Cancer Program: Specialists in the Familial Cancer Program support families with a history of cancer, or those with a child who has been diagnosed with cancer.