The UAB Department of Genetics works closely with many other UAB Medicine clinical areas to provide genetic testing and counseling to patients and their families, risk assessment for genetic-related conditions, and world-class clinical care. We visit with patients and their families in general genetics clinics, as well as participate in several specialty clinics, as described below.
Adult and Pediatric General Genetics Clinic
The UAB General Genetics Clinic provides evaluation, genetic testing (when clinically indicated), counseling, and condition management for children and adults with diagnosed or suspected genetic disorders. These include developmental delays, intellectual disabilities, autism, birth defects, hearing/vision loss, a family history of a known genetic condition, and much more. The clinic is staffed by an expert team of trained clinical geneticists, genetic counselors, and nurses. Their goal is to determine the underlying reasons for the patient’s condition, communicate this information to the patient or family, and help manage the disease or disorder.
Adult and Pediatric Cancer Genetics Clinic
The UAB Cancer Genetics Clinic helps determine whether you have or are at risk for a hereditary predisposition cancer syndrome and, if so, what can be done to customize treatment, reduce your risk, or diagnose the cancer early, when it is more treatable. Our specially trained genetic counselors evaluate your personal and family cancer history to assess your risk for different types of cancer, including cancers caused by a harmful abnormality in certain genes. Patients who choose to be tested are offered extensive information and counseling about the results, as well as any opportunities to participate in relevant research studies.
Biochemical/Metabolic Genetics Clinic
The UAB Biochemical/Metabolic Genetics Clinic provides lifelong, family-focused care to children and adults with an inherited metabolic disorder. We focus on patients with conditions such as phenylketonuria, galactosemia, urea cycle disorders, organic acidemias, and lysosomal storage disorders. Our multi-specialty team includes trained biochemical geneticists, metabolic dietitians, and nurses who help coordinate care and provide a wide range of inpatient and outpatient services, including medical management, nutritional and educational assistance, and genetic counseling for both patients and their families.
Mitochondrial Disease Clinic
The UAB Mitochondrial Disease Clinic provides lifelong, family-focused care to children and adults with an inherited disease affecting the mitochondria of the cells. Through collaboration with Pediatric and Adult Neurology and Biochemical Genetics, this clinic aims to support those affected by these specific disorders of the mitochondria, and these conditions affect how the body is utilizing and/or producing energy for normal bodily functions. Genetic counseling is provided to both the patients and their families.
Neurogenetics Clinic
The UAB Neurogenetics Clinic offers specialized evaluation and genetic counseling for patients with a personal or family history of neurological disorders that may have a genetic origin. Some patients may have a family history of such conditions, while others may be the first in their family to show symptoms. In either case, a consultation with our clinic can help determine if a genetic basis is contributing to your child’s neurological condition and provide essential support for those with a newly diagnosed neurogenetic disorder. Some examples of conditions seen in this clinic include genetic epilepsy syndromes, leukodystrophy, ataxia, brain malformations, hypotonia, congenital disorders of glycosylation, and much more. Rett Syndrome is evaluated and managed through our separate, specialized clinic.
Neurofibromatosis Clinic
The UAB Neurofibromatosis Clinic offers comprehensive, integrated care for individuals with all types of neurofibromatosis, including the most common forms and related conditions. As a leading center in neurofibromatosis care, our program is dedicated to providing expert diagnosis, treatment, and access to innovative research and clinical trials for patients and families impacted by these conditions. Our patients benefit from the expertise of a multidisciplinary team of specialists, including trained clinical geneticists, certified nurse practitioners, adult and pediatric neuro-oncologists, and genetic counselors, who work collaboratively to manage neurofibromatosis and its associated complications.
Tuberous Sclerosis Clinic
The UAB Tuberous Sclerosis Clinic offers comprehensive, multidisciplinary care for individuals affected by tuberous sclerosis. As a center of excellence in tuberous sclerosis care, our team is multi-disciplinary and includes clinically trained physicians in specialties such as neurology, genetics, nephrology, neurosurgery, endocrinology, ophthalmology, oncology, and pulmonology. Our goal is to offer the most current information on treatment and research, and as a major research center, UAB participates in many clinical research trials that may be open to our diagnosed patients for major cutting-edge therapies, not available elsewhere.
Adult Epilepsy Clinic
The UAB Epilepsy Clinic is equipped to diagnose and treat epilepsy using the most advanced medical and surgical techniques available worldwide, as a Level 4 Center, the highest designation by the National Association of Epilepsy Centers (NAEC). We offer a wide range of specialized procedures, including intracranial electrode implantation, cortical stimulation studies, advanced EEG methods, and a variety of conventional and specialized tests. Our patients benefit from the expertise of a multidisciplinary team of specialists, including trained clinical neurologists and genetic counselors, to provide evaluations of family history and potentially targeted therapies for underlying seizure disorders.
Huntington’s Disease Clinic
The UAB Huntington's Clinic, certified as a Center of Excellence by the Huntington's Disease Society of America, specializes in evaluating, diagnosing, and treating Huntington's disease, including risk assessments. Our expert team of clinically trained neurologists, genetic counselors, and therapists works to optimize patients' functional abilities and quality of life. We offer advanced diagnostic and treatment options, such as neuropsychological evaluations, medications, deep brain stimulation, and Botox injections. As a leading research hub, UAB also provides access to innovative therapies not available elsewhere.
Muscular Dystrophy Clinic
The Muscular Dystrophy Clinic at Children’s of Alabama hospital features a multi-specialty team of UAB Medicine experts who diagnose, treat, and provide continuing care for children with neuromuscular diseases such as muscular dystrophy. The clinic is supported in part by the Muscular Dystrophy Association and works closely with genetic counselors to provide diagnostic testing, risk assessment, and testing for family members.
Cleft Center and Craniofacial Center
The UAB Cleft Center provides world-class care to children with all varieties of cleft lip and palate, including unilateral, bilateral, complete and incomplete clefts, velopharyngeal insufficiency, submucous clefts, and syndromes that are associated with clefts. This multi-specialty team includes plastic surgeons, medical geneticists, genetic counselors, audiologists, speech and language pathologists, an otolaryngologist, a pediatrician, and a maxillofacial surgeon.
The UAB Craniofacial Center provides care for patients with facial issues due to trauma, tumors, or genetic syndromes, and it is staffed by many of the same specialists as the Cleft Center, along with neurosurgeons. The lifelong care and treatment provided at both centers is customized to each patient and may include surgical repair, nasoalveolar molding, orthodontics, speech and feeding support, hearing tests, and genetic evaluation.
Cystic Fibrosis Genetic Counseling for Newborns
UAB Medicine and Children’s of Alabama hospital operate a Cystic Fibrosis Center that provides counseling regarding newborns who have been identified, through testing, as carriers for cystic fibrosis. Accredited by the Cystic Fibrosis Foundation, the clinic is staffed by genetic counselors who work closely with UAB Medicine’s pulmonology team to explain the testing results to parents and discuss how the findings may impact other family members.
Hypermobility/Marfan Syndrome Clinic
The UAB Hypermobility Clinic specializes in the evaluation, counseling, and support for adults with suspected or diagnosed hypermobility spectrum disorders, including hypermobile Ehlers-Danlos syndrome. The clinic’s primary objective is to confirm or establish a diagnosis and provide tailored recommendations for managing the symptoms associated with hypermobility. While it offers essential guidance and resources, it does not provide ongoing medical care. An equally important goal is to assess and exclude more severe connective tissue disorders, making appropriate referrals to specialized care as needed.
The UAB Marfan Syndrome and Related Disorders Clinic offers a multidisciplinary approach, integrating expertise from the UAB Departments of Pediatric Cardiology, Genetics, and, when necessary, the UAB Congenital Heart Disease Program. The clinic provides a comprehensive range of services, including physical exams, echocardiograms, EKGs, and genetic testing. The clinic's genetic counselor plays a key role in helping patients understand their condition and assess the risks of medical complications, informed by the results of genetic testing. This collaborative team ensures a holistic, patient-centered approach to care for individuals with Marfan syndrome and related disorders.
Adult Cardiogenomics Clinic
The UAB Cardiogenomics Clinic uses genetic information to assess and manage cardiovascular diseases, which are the leading cause of death in the U.S. By combining genetic testing, counseling, and cardiovascular assessments, the clinic creates personalized treatment plans for patients with inherited heart conditions like high cholesterol, cardiomyopathy, and arrhythmias. The clinic focuses on early detection and prevention, emphasizing the importance of family history in assessing risk. Its multidisciplinary team provides comprehensive, one-stop care for patients and their families, integrating the latest advances in genomic medicine to guide treatment and improve heart health outcomes.
Turner Syndrome Clinic
The UAB Turner Syndrome Clinic offers comprehensive care for girls with Turner syndrome across all stages of development, from infancy through young adulthood. The clinic provides personalized, up-to-date medical management based on the latest Turner Syndrome guidelines. A key feature of the clinic is its multidisciplinary approach, integrating expertise from genetics, endocrinology, and other specialties to address the complex needs of patients. This collaborative team ensures that each patient receives coordinated care tailored to their unique needs, focusing on growth, puberty, and long-term health outcomes.
Metabolic Bone Clinic
The UAB Metabolic Bone Clinic provides comprehensive, interdisciplinary care for children with a wide range of metabolic bone disorders. This clinic brings together specialists from pediatric endocrinology, orthopedics, rehabilitation medicine, genetics, radiology, and other relevant fields to create personalized treatment plans for each patient. The multidisciplinary team works collaboratively to evaluate and manage conditions such as osteogenesis imperfecta, osteoporosis (primary or secondary), hypophosphatemic rickets, and other bone mineral metabolism disorders. By integrating expertise from various subspecialties, the clinic ensures a holistic approach to the care of children with metabolic bone diseases, addressing both immediate and long-term health needs.
Geno-Dermatology Clinic
The Geno-Dermatology Clinic at UAB specializes in the evaluation, diagnosis, and management of genetic skin disorders. Our expert team provides comprehensive assessments to identify underlying genetic conditions that affect the skin, offering personalized treatment plans and surveillance options to manage symptoms and prevent complications. With access to the latest diagnostic tools and cutting-edge therapies, we aim to improve both the health and quality of life for individuals with genetic skin conditions, while providing ongoing support and care tailored to each patient’s unique needs.
Prenatal Clinic
The UAB Prenatal Clinic provides counseling and risk assessment for a range of possible pregnancy concerns, including abnormal genetic testing results, advanced maternal age, drug and medication exposures, and a personal or family history of genetic disease. Our multi-specialty team of maternal-fetal medicine physicians, ultrasound technicians, and genetic counselors work together to provide services such as targeted ultrasound, chorionic villus sampling, and amniocentesis.