Genetics

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 and/or family, and help manage the disease or disorder. 

The UAB Cancer Genetics Clinic and the Pediatric Cancer Genetics Clinic at Children’s of Alabama help determine whether patients have or are at risk for an inherited cancer and, if so, what can be done to customize treatment, reduce the risk, or diagnose the cancer early, when it is more treatable. Our specially trained genetic counselors evaluate patients’ personal and family cancer history to assess their 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 opportunities to participate in any relevant research studies.

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. These include medical management, nutritional and educational assistance, and genetic counseling for patients and their family members. 

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 working with Pediatric and Adult Neurology and Biochemical Genetics, this clinic supports those affected by specific disorders of the mitochondria, which affect how the body is using and/or producing energy for normal bodily functions. Genetic counseling is available for patients and their family members. 

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 the 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 a separate, specialized clinic.

The UAB Neurofibromatosis Clinic offers complete, integrated care for individuals with all types of common and rare neurofibromatosis and related conditions. As part of a leading medical center for 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 multi-specialty team, which includes trained clinical geneticists, certified nurse practitioners, adult and pediatric neuro-oncologists, and genetic counselors. They work together to manage neurofibromatosis and associated complications. 

The UAB Tuberous Sclerosis Clinic offers complete, multi-specialty care for individuals affected by tuberous sclerosis. As a part of a Center of Excellence for tuberous sclerosis care, our multi-specialty team includes clinically trained physicians in specialties such as neurology, genetics, nephrology, neurosurgery, endocrinology, ophthalmology, oncology, and pulmonology. Our goal is to offer the latest information on treatment and research. Also, as a major research center, UAB participates in many clinical research trials that may provide diagnosed patients with promising new therapies not available elsewhere.

The UAB Epilepsy Clinic diagnoses and treats epilepsy using the most advanced medical and surgical techniques available. Our clinic is designated as a Level 4 Center, which is the highest designation from the National Association of Epilepsy Centers. 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 multi-specialty team, including trained clinical neurologists and genetic counselors. They evaluate family history and potentially recommend targeted therapies for underlying seizure disorders.

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 work together 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 may provide access to promising new therapies not available elsewhere.

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. 

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. 

UAB Medicine and Children’s of Alabama hospital operate a Cystic Fibrosis Center that provides counseling regarding newborns who have been tested and identified 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. 

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 rule out more severe connective tissue disorders and make appropriate referrals to specialized care as needed.

The UAB Marfan Syndrome and Related Disorders Clinic offers a multi-specialty approach, combining expertise from the UAB departments of Pediatric Cardiology, Genetics, and, when necessary, the UAB Congenital Heart Disease Program. The clinic provides a complete range of services, including physical exams, echocardiograms, EKGs, and genetic testing. The clinic’s genetic counselor helps patients understand their condition and assesses their risks for medical complications, informed by the results of genetic testing. This collaborative team ensures a whole-body, patient-centered approach in caring for individuals with Marfan syndrome and related disorders.

The UAB Cardiogenomics Clinic uses genetic information to assess and manage cardiovascular diseases, which are the leading cause of death in the United States. 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 multi-specialty team provides complete, one-stop care for patients and their families, using the latest advances in genomic medicine to guide treatment and improve heart health outcomes.

The UAB Turner Syndrome Clinic offers complete 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 guidelines. A key feature of the clinic is its multi-specialty approach, integrating expertise from genetics, endocrinology, and other specialties to address the complex needs of patients. This collaborative team ensures that patients receive coordinated care tailored to their unique needs, focusing on growth, puberty, and long-term health.

The UAB Metabolic Bone Clinic provides complete, multi-specialty care for children with a wide range of metabolic bone disorders. This clinic brings together specialists from pediatric endocrinology, orthopaedics, rehabilitation medicine, genetics, radiology, and other relevant fields to create personalized treatment plans for each patient. The team collaborates to evaluate and manage conditions such as osteogenesis imperfecta, osteoporosis (primary and secondary), hypophosphatemic rickets, and other bone mineral metabolism disorders. By combining expertise from various subspecialties, the clinic ensures a whole-body approach to caring for children with metabolic bone diseases, addressing both immediate and long-term health needs.

The UAB Geno-Dermatology Clinic specializes in the evaluation, diagnosis, and management of genetic skin disorders. Our expert team provides complete 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 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.

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.