Genetics

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. Some of these services are provided through specialty clinics, as described below. In most cases, patients must be referred to these clinics by one of their existing providers. The cost for genetic testing services may not be covered by insurance.

Biochemical Genetics Clinic

The UAB Biochemical 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 (PKU), galactosemia, urea cycle disorders, organic acidemias, and lysosomal storage disorders. Our multi-specialty team includes specially trained physicians known as 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.

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 pathogenic variant (abnormality) in certain genes. Genetic testing may be recommended to further understand your risk. 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.

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. For more information, click here.

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. For more information, click here.

General Genetics Clinic

The UAB General Genetics Clinic provides evaluation, genetic testing (when needed), 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 clinical geneticists (physicians with special training in genetics), 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.

Huntington’s Clinic

The UAB Huntington’s Clinic is certified by the Huntington’s Disease Society of America as a Center of Excellence and focuses on evaluating, diagnosing, and treating this condition, as well as testing to determine a patient’s risk for it. Our multi-specialty team of experts includes neurologists, genetic counselors, and physical, occupational, and speech therapists who help patients maximize their functional abilities and quality of life. We offer the latest diagnostic and treatment options, including neuropsychological evaluations, medications, deep brain stimulation surgery, and Botox injections. Because UAB is a major center for research, patients may be eligible for promising new medical and surgical therapies not available at other medical centers.

Hypermobility Clinic

The UAB Hypermobility Clinic provides evaluation, counseling, and resources for adults with known or suspected hypermobility syndrome or hypermobile Ehlers-Danlos syndrome. The clinic’s primary goal is to make or confirm a diagnosis and provide patients with recommendations and resources for managing the symptoms of hypermobility, but it does not provide ongoing medical care. The clinic’s secondary goal is to rule out more severe types of connective tissue disorders and make appropriate referrals, if needed.

Marfan Syndrome and Related Disorders Clinic

The UAB Marfan Syndrome and Related Disorders Clinic is staffed by physicians from the UAB Department of Pediatric Cardiology, the UAB Department of Genetics, and – when necessary – the UAB Congenital Heart Disease Program. Services offered include physical exams, echocardiogram/EKG, and genetic testing. The clinic’s genetic counselor works with patients to help them better understand their condition and evaluate their risk for medical issues based on genetic testing results.

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 UAB Medicine Genetic Counselors to provide diagnostic testing, risk assessment, and testing for family members. For more information, click here.

Neurogenetics Clinic

The UAB Neurogenetics Clinic provides testing and evaluation for children who have a neurologic condition that may be caused by a pathogenic variant in a gene (abnormality). We offer genetic evaluations for diagnoses of epilepsy, developmental regression, ataxia, leukodystrophy, brain malformations, and hypotonia. Your child will be evaluated by a neurogeneticist (a physician trained in both neurology and genetics) and a genetic counselor. The process includes taking detailed medical and family histories, a review of any tests done by other providers, and genetic testing, as necessary.

Pediatric Cancer Genetics Clinic

The Pediatric Cancer Genetics Clinic at Children’s of Alabama helps determine a child’s individual risk for cancer due to a possible inherited genetic disorder, and it develops customized treatment plans for children with a diagnosis of inherited cancer predisposition syndrome. The clinic is staffed by UAB Medicine geneticists (physicians with special training in genetics) and genetic counselors who coordinate genetic testing as needed, provide recommendations for managing and minimizing cancer risk, counsel parents about genetic testing for their child, and offer education and emotional support for patients and family members who inherited a genetic risk for cancer.

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.

The rapidly growing field of genetics helps medical professionals better understand diseases and conditions that are connected to our genes, treat patients more effectively, and more accurately predict their risk of developing genetic-related disorders. The UAB Department of Genetics is a national leader in this field. Our expert geneticists (physicians with special training in genetics), genetic counselors, and other providers work hand in hand with various UAB Medicine departments and clinics to educate patients and their families about genetic health factors and help deliver the world-class medical care that UAB is known for.

UAB Medicine is ranked by U.S. News & World Report as the No. 1 hospital in Alabama and among the nation’s best, and we are one of the top academic medical centers in the United States. Because UAB a major center for clinical research trials, patients may have access to promising new therapies long before they are available at other hospitals.