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Genetics

Yale is a major academic referral center for clinical genetics services. Clinical genetics is a multidisciplinary team within the Department of Genetics that provides clinical evaluations, diagnostic testing, genetic counseling, and management for children and adults with hereditary disorders. We perform comprehensive and state-of-the art genomic testing in dedicated laboratories and interpret the results using the most up-to-date technology. All care is provided in a patient- and family-oriented manner.

Our Approach

We care for patients with a variety of conditions including:

  • Genomic disorders, including chromosomal abnormalities such as Down syndrome and chromosome microdeletion and microduplication disorders such as 22q11 deletion syndrome, William syndrome, and WAGR syndrome, among many others
  • Congenital malformations, including craniosynostosis, cleft lip and palate, limb anomalies, and other conditions with distinctive features
  • Developmental delay, intellectual disability, and autism spectrum disorders such as fragile X, Rett, Phelan-McDermid, Angelman, Prader-Willi syndromes
  • Connective tissue disorders such as Ehlers-Danlos and Marfan syndrome
  • Short stature syndromes and skeletal dysplasia
  • Inherited neurological disorders, including neurometabolic disorders, epilepsy, and neuromuscular conditions
  • Inherited heart disorders, including cardiomyopathy, congenital heart malformations, and genetic syndromes with heart manifestations
  • Lysosomal storage disorders such as Pompe and MPS diseases
  • Hereditary cancer
  • Abnormal newborn screening and inborn errors of metabolism
  • Conditions involving Differences in Sexual Development (DSD)
  • Neurocutaneous disorders such as neurofibromatosis type 1 and tuberosclerosis complex (TSC)
  • Syndromic and non-syndromic hearing loss
  • Ophthalmological abnormalities, including aniridia, cataract, and retinal dystrophy
  • Undiagnosed and rare genetic diseases

Our Team

Our team includes physician medical geneticists, genetic counselors, APRNs, metabolic nutritionists, and social workers. We frequently collaborate with pediatric and adult specialists in cardiology, neurology, obstetrics, gynecology, surgery, dermatology, nephrology, orthopaedics, ophthalmology, and oncology. We collaborate closely in multidisciplinary clinics with colleagues in cardiology, neurology, endocrine, orthopaedics, ENT, urology, gynecology, and maternal-fetal medicine, as well as with those in the Fertility Center and the Smilow Cancer Genetics and Prevention Program.

Yale scientists were first to perform a clinical diagnosis by genome-scale DNA sequencing. They are now using this technology to identify genetic disease in undiagnosed patients, as well as pinpoint the causes of some cancers.

Distinguishing Factors

  • Multidisciplinary clinics for patients with genetically based cardiovascular disease, neurologic disorders, DSD, and Down syndrome
  • Genetic counseling available to patients and families upon diagnosis, which includes interpreting and providing direction for complex results, addressing psychosocial issues, and providing referrals for best management
  • Newborn screening services include follow-up appointments, rapid laboratory assessment, and collaborative management with primary care physicians
  • One of the largest DNA sequencing facilities in the world with on-site genomic testing (including whole exome and whole genome sequencing), as well as cytogenetic and biochemical testing
  • Specialty clinic for patients with metabolic disorders with physician Board Certified in Medical Biochemical Genetics
  • Large, comprehensive cancer genetic testing and counseling program
  • In-house biochemical diagnostic lab that provides fast service

Clinical Laboratories

Yale Genetics directs two laboratories:

  • The Cytogenetics Laboratory provides complete analysis for chromosome abnormalities in prenatal, clinical, and cancer genetics. Innovative techniques that employ molecular cytogenetics and genomic analysis are now integral diagnostic and prognostic tools that we use in a variety of settings. This lab provides a full range of services including microarray, karyotyping, FISH, and skin tissue cultures.
  • The DNA Diagnostics Laboratory┬áprovides comprehensive molecular diagnostic testing for genetic diseases using cutting-edge genome-scale, DNA sequencing. Services, including whole exome and genome sequencing, offer tests for prenatal diagnosis, diagnosis of adult and pediatric genetic disease, cancer genomics, and rapid whole genome sequencing for children in the neonatal and pediatrics ICUs.

Our Programs

Inborn Errors of Metabolism Program

We diagnose and care for patients with amino acid, organic acid, and fatty acid metabolism disorders and mitochondrial disorders. We provide newborn screening follow-up and assessment care, and rapid laboratory testing, working closely with primary care physicians to manage these disorders. We diagnose and manage lysosomal storage disorders with enzyme replacement. We also provide molecular genetic testing and assessment of family members at risk.


Huntington Disease Program

We provide counseling and neurologic assessment of family members at risk for or who have Huntington disease. We are a Huntington Disease Society of America-approved pre-symptomatic testing center. We also interpret laboratory results and arrange for follow-up care.

Prenatal Genetic Diagnosis Program

We provide state-of-the-art comprehensive prenatal diagnostic testing and screening. Our team of medical geneticists and genetic counselors works in collaboration with maternal-fetal medicine specialists to provide expert advice and care in both routine and complex situations.

Our services include:

  • Chorionic villus sampling (CVS)
  • Amniocentesis
  • First trimester screening
  • Second trimester screening
  • Fetal blood sampling
  • Fetal tissue biopsy
  • Detailed ultrasound examination
  • Fetal karyotyping
  • Biochemical testing
  • FISH analysis
  • Molecular genetic analysis
  • Array comparative genomic hybridization (chromosomal microarray)
  • Carrier testing for cystic fibrosis, Fragile X syndrome, spinal muscular atrophy, sickle-cell disease and other blood disorders, Ashkenazi Jewish genetic diseases
  • Referrals to the Yale Medicine Fertility Center for in vitro fertilization, preimplantation genetic diagnosis
  • Supportive counseling