Genetics

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

• 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 sequencing 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

We provides full services for patients with metabolic disorder, both common and rare. The clinics are staffed by physician geneticists, APRNs, genetics counselors, metabolic nutritionists, and social workers. We diagnose and care for patients with the following:

• Amino acid disorders
• Organic academia
• Fatty acid metabolism disorders
• Lysosomal storage diseases
• Glycogen storage disease
• Mucopolysaccharidosis
• Peroxisomal disorders
• Mitochondrial disorders, and other rare disorders that lead to disruption in metabolism

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 and mucopolysaccharidosis with enzyme replacement. We also provide molecular genetic testing and assessment of family members at risk.

This clinic is a joint clinic between Genetics and Neurology. This clinic provides both diagnostic services for children with neurologic conditions and treatment of children with inherited neurologic diseases. There is a particular focus on neurometabolic disease, although a wide range of clinic conditions are cared for in this clinic. The joint evaluation of neurologic conditions allows for more rapid and comprehensive diagnostic testing and seamless care for children with inherited metabolic conditions.

This clinic is a primary venture of the Neurology and Orthopaedics departments, which is supported by pulmonary, cardiology, and genetics. We have one of the few MDA programs in the country that have a physician geneticist on staff. Genetics provides diagnostic evaluations together with Neurology, as well as extensive counseling for families with known disorders. We also follow appropriate metabolic neuromuscular disorders in this clinic that could benefit from the multidisciplinary approach.

The clinic is staffed with specialists from neurology, orthopaedics, pulmonology, cardiology, genetics, physical therapy, occupational therapy, and social work, as well as with a dietitian and a nurse coordinator.

This is a joint clinic between the Genetics and Neurology departments. Genetics provides diagnostic services for patients with epilepsy, including comprehensive genetic and metabolic testing. The clinic also provides interpretation of testing, as well as counseling. We also provide testing and counseling for at-risk family members. Epilepsy treatment is provided via longitudinal care by neurologists with special expertise in care of patients with seizures.

This is a joint clinic between Genetics and Pediatric Cardiology. We focus on evaluating, counseling, and treating patients and families with genetic heart diseases. We provide comprehensive evaluations, including echocardiography and other cardiovascular imaging, and offer highly specialized molecular testing, including microarray, next generation sequencing, and whole exome sequencing to identify a possible genetic etiology for patients at risk of a range of cardiovascular diseases. We generally evaluate patients for various congenital heart anomalies, Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm/dissection, Noonan syndrome, and several chromosome microdeletion syndromes such as Williams syndrome and 22q11.2 deletion syndrome.

This is a joint clinic between Genetics and the Cardiology Heart Failure Clinic. Genetics provides diagnostic services for patients with cardiomyopathy and heart failure, including comprehensive genetic and metabolic testing. The clinic also provides interpretation of testing and counseling as well as testing and counseling for at-risk family members.

Treatment of the cardiomyopathy is provided via longitudinal care by a cardiologist with special expertise in the care of patients with cardiomyopathy and heart failure. This clinic also works closely with the Genetics department to co-manage metabolic disorders that can have cardiac dysfunction, including fatty acid oxidation disorders, Barth syndrome, mitochondrial disease, organic acidemia, and glycogen storage disease.

Yale Medicine has formed a multidisciplinary team to provide comprehensive care for children and adults with differences in sexual development (DSD). Our team includes experts from pediatric endocrinology, urology and gynecology, clinical genetics, and child and adolescent psychology. We utilize a team-based approach to diagnose and provide care for patients with ambiguous genitalia, family history of intersex condition or other DSD, Turner syndrome, mosaic Turner syndrome, Klinefelter syndrome, primary amenorrhea, proximal hypospadias, vaginal agenesis, Congenital Adrenal Hyperplasia (CAH), and Complete and Partial Androgen Insensitivity syndrome (CAIS and PAIS), to name a few.

Our DSD Program has recently joined the DSD Translational Research Network (DSD-TRN), a national network of expert DSD programs throughout the country.

This multidisciplinary clinic is staffed with geneticists, endocrinologists, otolaryngologists, audiologists, nurse practitioners, and social workers. We provide comprehensive care to both children and adults with Down syndrome following the most up-to-date guideline. Children here receive individualized (and coordination of) care to help them thrive.

We are part of the federally designated hemophilia treatment center—one of eight such centers in New England. Our genetics team provides diagnosis and counseling for both children and adults referred to the program for hemophilia care and other disorders of hemostasis.

This is a multidisciplinary clinic that provides comprehensive care for children who need a neuro-oncology service. Clinical genetics is part of a team that includes experts from pediatric oncology, neurology, ophthalmology, dermatology, orthopaedics, neuropsychology, and psychology.

Our clinic is the only comprehensive care center in Connecticut for children with neurofibromatosis.

We are one of only a few programs in the nation to offer this service. For the critically ill or medically complex patients in neonatology ICU (NICU) and pediatric ICU (PICU), the lack of a clear diagnosis presents a challenge for patients, family, and health care providers.

Advancements in next-generation sequencing technology has revolutionized diagnostic genetic testing, especially with the introduction of Whole Genome Sequencing (WGS). WGS is a powerful tool for detecting known and potential disease-causing variations. WGS is advantageous as a single test to detect variants that may not be amenable to current genetic testing.

The program is an excellent collaborative effort among specialists from pediatrics, clinical genetics, DNA diagnostic laboratory, and Yale Center for Genome Analysis. We report the WGS result with 3-5 days for critical ill patients in NICU and PICU so the provider can make better decisions for patient care.

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 provides comprehensive molecular diagnostic testing for genetic diseases using cutting-edge genome-scale, DNA sequencing. Services, including whole exome sequencing and whole 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.