The Biochemical Genetics Clinic consists of a multidisciplinary team dedicated to providing family-focused care to children and adults who have been diagnosed with an Inherited Disorder of Metabolism. It provides both inpatient and outpatient lifelong follow up for this patient population. This multidisciplinary approach allows us to offer medical, nutritional and educational assistance to individuals and their families.
The Skeletal Dysplasia Clinic serves children with known or suspected inherited skeletal disorders such as achondroplasia, osteogenesis imperfecta, Ellis van Crevald disease and epiphyseal dysplasias. A common referral indication is short stature.
Skeletal dysplasias are a heterogeneous group of disorders that affect bone and cartilage resulting in abnormal growth and development of the skeleton. Shortness of stature is often a severe impediment that affects everyday living. Individuals may find it difficult to adapt to society or the workplace, participate in school or recreational activities and socialize in general.
In addition to physical characteristics, people with skeletal dysplasias may have many other health-related problems such as spine and joint disorders; heart defects; ear, nose and throat problems; and neurologic disability.
This is multispecialty clinic is held at Children's Hospital. Diagnostic imaging and interpretation is available on-site by radiologists trained in skeletal dysplasias. Initial evaluation and diagnosis as well as routine, chronic and acute care can be provided through this clinic. Adults who have a known or suspected skeletal dysplasia are evaluated in our general genetics clinics.
The UAB Clinical Cancer Genetics team consists of specially trained genetic counselors and physicians who can investigate cancer risk in a family and provide clear and clinically relevant information in a supportive environment. This information may be helpful in making medical decisions about how to manage risk for cancer. The initial consultation will involve the following:
- Hour-long session focusing on your questions and concerns about cancer risk
- Opportunity to learn about cancer in a way you can understand, including
- risk to you and your close relatives
- available genetic testing options and whether or not testing is appropriate for you and your family members
- legal protections you have against employment or insurance genetic discrimination
- options for insurance coverage or reimbursement for genetic testing
- options for participation in research and registries
Cancer genetic testing is not recommended for everyone. Many factors need to be considered and will be discussed during your genetic consultation. The cost for genetic testing varies and may or may not be covered by insurance.
The UAB Cleft Center is a multidisciplinary clinic includes a plastic surgeon, medical geneticist and a genetic counselor. Other specialties include audiology, speech and language pathology, pediatric otolaryngology and maxillofacial surgery.
The UAB Genetic Counseling Clinic provides counseling and risk assessment for a variety of indications including recurrent pregnancy loss, personal and family history of genetic disease, and advanced maternal age. Patients meet with a genetic counselor to discuss risk assessment and testing options.
The general genetics clinic provides evaluation, counseling, and ongoing management for children and adults with known or suspected genetic disorders. Our goal is to determine the underlying reasons for the problems present in the individual, to communicate this information to the patient or family and to assist with ongoing management of these conditions. This clinic is staffed by physicians, genetic counselors and nurses. We evaluate patients from all over the region for a variety of reasons including developmental delay, birth defects and a family history of genetic disease.
The UAB Huntington's Clinic is certified as a Huntington’s Disease Society of America (HDSA) Center of Excellence. This multidisciplinary clinic provides evaluation, diagnosis, treatment and predictive testing for individuals who are affected by or at risk for Huntington's disease.
The UAB Neurofibromatosis Clinic functions as a multidisciplinary team led by Dr. Bruce Korf and Dr. Lane Rutledge, who have extensive experience in caring for patients with this condition. Clinic staff include genetic counselors and nurses, as well as access to specialists as needed. The clinic serves patients and their families dealing with the lifelong medical, psychological and social implications of this diagnosis.
The UAB Prenatal Clinic is a multidisciplinary clinic that includes physicians from the UAB Department of OB/GYN Division of Maternal and Fetal Medicine, ultrasound technicians and genetic counselors. Services offered through this clinic include targeted ultrasound, chorionic villus sampling and amniocentesis. Genetic counselors provide patient counseling and risk assessment regarding a variety of indications, including abnormal serum screening, advanced maternal age, drug and medication exposures, and personal and family history of genetic disease.
This clinic provides service to patients who have an established or suspected diagnosis of tuberous sclerosis complex (TSC). Our interdisciplinary team includes experts from genetics, neurology, dermatology and genetic counseling. In addition, we have ready access to consultants in endocrinology, pulmonology, nephrology, neurosurgery, ophthalmology and more. The goal of this clinic is to provide patients and their families with access to medical providers who are familiar with the healthcare guidelines and medical or emotional concerns of patients with tuberous sclerosis complex. Our providers also strive to have the most current information on treatment and research in the field.
The Undiagnosed Diseases Program (UDP) seeks to meet the needs of patients with severe chronic medical conditions in whom a diagnosis has not been made despite extensive efforts by the referring physician. Achieving an accurate diagnosis can be instrumental in guiding management, treatment and counseling. Our program is powered by UAB Medicine, Children’s of Alabama and HudsonAlpha Institute for Biotechnology, a collaboration that provides input from a team of expert clinicians and utilizes cutting-edge genetic and genomic technologies, in a concentrated effort to uncover a diagnosis and thus determine and recommend effective treatment.