Yale Genetics provides diagnosis, evaluation, counseling, and management for genetic and congenital conditions. Yale performed the first clinical diagnosis by genome-scale DNA sequencing, and is applying this technology to undiagnosed patients with suspected genetic diseases, and to identify the specific causes of cancer in individual patients. Yale Genetics cares for inpatients with inborn errors of metabolism; provides consultation in clinical, cardiac and prenatal genetics; and directs two laboratories:
- Cytogenetics laboratory: Molecular cytogenetics and genomic analysis are now integral diagnostic and prognostic tools in various branches of medicine. The lab provides complete analysis for chromosome abnormalities in prenatal genetics, clinical genetics and cancer genetics.
- DNA diagnostics laboratory: Provides molecular diagnostic testing for a variety of genetic diseases. Next generation DNA sequencing is performed, allowing comprehensive diagnosis of gene mutations that cause disease. New genetic diagnostics in the DNA lab provides sequencing of whole gene exomes for analysis.