Skip to Main Content


Clinical Genetics at Yale School of Medicine has a long and distinguished history of advancing the understanding of inherited disorders and providing outstanding care to patients and families with a genetic disorder or suspected of having such a disorder. Informed by transformative basic and translational research, highly trained Yale genetics physicians and support staff provide comprehensive diagnostic evaluations, genetic counseling, and care for children and adults affected by a wide variety of rare and complex inherited and congenital conditions.  

The full spectrum of state-of-the-art genetics laboratory services, including molecular and cytogenetic diagnostic laboratories, are housed within the Department.  Comprehensive and compassionate clinical care of the highest quality is provided by a team of highly experienced physicians who specialize in medical genetics, genetic counselors, nurse practitioners, nutritionists, and laboratory geneticists who value collaboration and respect for individuals and families. 

Recognizing its stature in the field, the Department has been designated a Center of Excellence for rare diseases by the National Organization of Rare Disorders. It is committed to improving access to and care for patients with rare disorders.

Appointments for a genetic evaluation can be scheduled by calling (203) 785-2660. Your health care provider must make a referral for genetics evaluation via the EPIC electronic medical record, and our schedulers will contact you to schedule an appointment.


The mission of Clinical Genetics is:

  • To provide outstanding and compassionate clinical care to patients by applying the most recent diagnostic and therapeutic advances based on cutting-edge basic and translational genetic/genomic research
  • To provide outstanding training for clinical and laboratory geneticists, empowering them to become leaders in the seamless integration of genetics and genomics across the entire field of medicine.
  • To advance the field of genetics and genomics medicine through the innovative research programs housed in our department and university.

Clinical Services

Patient care

General Genetics Clinic for Children and Adults. We provide comprehensive diagnostic evaluations, follow-up, and management for children and adults with a large variety of medical problems, including:
  • Birth defects
  • Chromosomal abnormalities
  • Abnormal results of newborn screening
  • Inborn errors of metabolism
  • Intellectual disability
  • Autistic spectrum disorder
  • Developmental delay
  • Neurocutaneous disorders
  • Childhood and adult genetic syndromes
  • Hereditary cancer syndromes (link to cancer counseling )
  • Individuals suspected to have a genetic disorder

Note: We care for patients and families with many other genetic disorders. Please contact us at (203) 785-2660 if you have questions about whether a patient should be referred for genetic consultation. 

Specialty clinics

Rapid whole genome sequencing for neonatal and pediatric intensive care unit patients

A rapid diagnosis is often critical for making decisions about patient care when a child has a severe illness suspected to have a genetic basis. Rapid whole genome sequencing can provide results in about one week. 

Our Laboratory Services

Information for medical professionals about Yale Cytogenetics Laboratory and the Yale DNA Diagnostics Laboratory, offering cutting-edge expertise in molecular diagnostics, chromosome and chromosome microarray analysis, and fluorescence in situ hybridization (FISH).