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Biochemical Genetics/Inherited Disorders of Metabolism

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.

Cancer Genetics

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.

Cleft Lip/Palate Clinic

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.

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Genetic Counseling

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.

General Genetics

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.

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Huntington’s 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.

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Neurofibromatosis

The UAB Neurofibromatosis Clinic functions as a multidisciplinary team led by Dr. Bruce Korf, 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.

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Pediatric Cancer Genetics

The Pediatric Cancer Genetics Clinic at Children’s of Alabama provides cancer and genetic risk assessments for children, recommendations for managing cancer risk, as well as education and emotional support for families affected by hereditary cancer syndromes.

We are dedicated to continually working to find missing pieces in the cancer genetics story. We want to help determine whether your children are at risk for or have a hereditary explanation for their cancer, and if so, what can be done to prevent future or address it as soon as possible. 

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Prenatal

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.

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Tuberous Sclerosis

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.

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Undiagnosed Diseases Program

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.

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