Our expert pathologists are key players in all health care provided by Yale Medicine. By studying bodily fluids and tissues, we help other physicians make diagnoses. We offer highly specialized diagnostic and consultation services in all major specialty and subspecialty areas of pathology. Our subspecialists attend all regular meetings in which a number of doctors from various specialties review and discuss a patient's medical condition and treatment options.They are on call around the clock, ensuring that doctors working in oncology, surgery, transplantation, and other service areas always have access to our expert knowledge. Our internationally recognized physicians offer specialized expertise in breast, cytopathology (cell), dermatologic, endocrine, gastrointestinal and liver, gynecological, head and neck, hematologic (blood), neurologic, ophthalmologic, pediatric, kidney, soft-tissue and bone, transplant, thoracic and urologic pathology, molecular and genomic pathology, and autopsy pathology. Specialized care is offered in the following areas: Accredited PD-LI testing Autopsy Cytopathology Intraoperative frozen section and tumor triaging service Molecular diagnostics and tumor genomics profiling Pediatric pathology Support laboratories: histology, immunohistochemistry, translational pathology, and electron microscopy and quantitative immunofluorescence analysis of multiplexed tumor markers Surgical pathology with subspecialty expertise in gastrointestinal tract and liver; prostate; bladder; kidney; gynecological tract; endocrine system; head, neck, and oropharynx; bone and soft tissue; hematologic and lymphoid system; brain, muscle and eye; pulmonary system; and transplantation

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. 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 Down Syndrome Program Craniofacial Program Neurofibromatosis Program We provide dia

At Laboratory Medicine, we study the molecular and cellular components of blood and other body fluids. This work is crucial to diagnosing and managing illness and understanding the mechanisms and origins of disease.Our physicians, known as clinical pathologists, provide consultations to other doctors regarding optimal laboratory diagnostic approaches and the interpretation of complex laboratory tests. Our team includes pathologists, scientists, phlebotomists, medical technicians, technologists, and others who perform important support functions for our state-of-the-art laboratory. We are available every day, 24 hours a day, for physicians. We perform approximately 10 million tests each year, and also provide specialized high-tech testing to other hospitals in the Yale New Haven Health System and institutions throughout New England, and as far away as Puerto Rico. We also operate multiple satellite facilities and patient service centers located throughout the state. We ensure that every test we offer—at every location—is accurate and reliable. When physicians request to have patients’ blood drawn, here is what happens: Collection: A doctor, nurse, technician, or phlebotomist will draw the patient’s blood. Several tubes may be needed for different types of tests. Depending on what illness the patient might have, his or her doctor may want to obtain a urine sample, throat swab, or other sample. After the sample is collected, the container is labeled with the patient’s name and other information. The sample is received and processed by the Laboratory, and testing begins: Chemistry Testing Blood and other bodily fluids are tested for chemicals, drugs, and substances that indicate disease. We check cholesterol and other tests for risk of heart disease, glucose to monitor diabetes, or thyroxin to monitor the thyroid gland. Hematology Testing We analyze the amount and function of blood cells and plasma. Examples include the Complete Blood Count (CBC) that tells the doctor how many cells of each type are in the patient’s blood, and the prothrombin time (PT) to measure the time it takes for the blood to clot. Microbiology Testing We test a variety of specimen samples for infections caused by bacteria, fungi, or parasites. We often do urine cultures for urinary tract infections. Virology Testing We test for viral infections. This includes rapid tests for respiratory viruses such as influenza, molecular tests for noroviruses, and antibody tests for HIV. Immunology/Molecular Diagnostics Some tests are used to determine whether the immune system is functioning properly. State-of-the-art analysis of DNA and RNA is used to test for a variety of diseases and for the risk of developing certain diseases. Other specialized tests include the ANA, used to screen for autoimmune disease, and Factor V Leiden genotyping for patients with blood clots. Tumor Profiling Laboratory This lab analyzes tumor DNA to predict the sensitivity or resistance of tumors to a