The Division of Molecular Medicine and Genetics provides outpatient services and consultation for the diagnosis, evaluation, management, and genetic counseling of patients and families with known or suspected hereditary diseases, and for individuals and family members concerned about the risk for such diseases. Comprehensive services are available for a wide range of diverse genetic conditions, including neurocutaneous disorders such as:
- Neurofibromatosis and tuberous sclerosis
- Connective tissue disorders such as Ehlers-Danlos syndrome
- Osteogenesis imperfecta and Marfan syndrome
- Late onset neurological disorders such as Huntington disease and familial Alzheimer's disease
- Cardiovascular disorders such as Long QT syndrome and familial cardiomyopathies
- Chromosomal disorders such as Down syndrome
- Sex chromosome disorders and microdeletion syndromes
- Coagulation disorders
- Cystic fibrosis and mental retardation syndromes among many others.
Evaluations include review of family history, medical assessment, physical examination, genetic counseling, risk assessment, genetic testing, education services and psychosocial support, as appropriate. Preconception counseling and discussion of reproductive options also are available. Through the Medical Genetics Clinic, genetic tests, including chromosome, DNA and biochemical analyses, are available for diagnostic and predictive testing. All physicians have formal training in clinical genetics and collectively have expertise representing a broad range of other disciplines including Internal Medicine, Hematology/Oncology, Obstetrics and Gynecology, Molecular Genetics, Cardiology and Pediatrics.