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Genetics

Our team of expert medical geneticists, genetic counselors, and physician assistants provides comprehensive genetics services including clinical evaluations, state-of-the-art molecular diagnostic testing, genetic counseling, and medical management for individuals across the lifespan with suspected or known genetic disorders.  We provide care in a variety of settings including general genetics clinic and multiple specialty clinics and collaborate closely with referring physicians and other specialists.

If you have questions about whether your patient might benefit from a genetics evaluation, please call us at 203-785-2660.

Laboratory Services

The Yale Cytogenetics Laboratory and the Yale DNA Diagnostics Laboratory are accredited by the College of American Pathologists (CAP) and certified by the Clinical Laboratory Improvement Amendments (CLIA).  These laboratories offer cutting-edge expertise in molecular diagnostics, chromosome and chromosome microarray analysis, and fluorescence in situ hybridization (FISH).

Cytogenetics Laboratory

The Yale University Cytogenetics Laboratory is a CAP-accredited and CLIA-certified laboratory with over 50 years of experience. We provide the full spectrum of cytogenetic testing, including routine chromosome analysis, fluorescence in situ hybridization (FISH), and advanced chromosomal microarray diagnostics.

We perform diagnostic testing on blood, amniotic fluid, chorionic villi, products of conception, bone marrow, skin, and solid tumor samples.  In addition, we accept various cell lines and tissues from researchers. We provide state-of-the-art services with fast turnaround time and competitive prices.

Our services and specimen requirements can be found on the Yale Cytogenetics Laboratory website.

DNA Diagnostics Laboratory

The Yale DNA Diagnostics Laboratory has been offering state-of-the-art molecular diagnostic services for diagnosing hereditary disorders for more than 30 years, carrying the most recent discoveries about genetic disorders and novel methodology from the research laboratory to the medical setting.  The laboratory has been accredited by the College of American Pathologists (CAP) and certified by the Clinical Laboratory Improvement Amendments (CLIA).

CAP Number: 1191007

CLIA Number: 07D0098275 

CT DPH 2023 state license

  1. Specimen requirements
  2. How to order and submit your sample
  3. Overview of genetic testing
  4. Frequently Asked Questions about Genetic Testing 
  5. Billing
  6. Contact Us 


Clinical Services

See a full list of the clinical genetics services we provide.

Educational Opportunities

Learn more about grand rounds, residency and fellowship opportunities through the Yale School of Medicine.

Genetics Research

Learn more about research at the Yale School of Medicine.