Genetics Overview
Genetics at UAB specializes in diagnosis, treatment, and counseling for all genetic conditions. Our clinical services include prenatal assessment and diagnosis of genetic conditions in the unborn child, pediatric and adult care (both inpatient and outpatient), cancer genetic services (counseling and genetic testing), and state-of-the-art laboratory services (cytogenetics, molecular genetics, and biochemical genetics).
Conditions Treated
Genetics at UAB provides evaluation and counseling for a wide variety of conditions, some of which are listed below. If you do not see the disorder you are looking for, please call and ask us about it.
UAB Genetics offers genetic evaluation for:
- Abnormal Newborn Screening Results
- Achondroplasia
- Angelman Syndrome
- Autism
- Birth Defects
- Cardiac Arrhythmias
- Cardiomyopathy
- Cleft lip and palate
- Chromosomal Disorders
- Connective Tissue Disorders
- Craniofacial disorders
- Developmental Delay
- DiGeorge Syndrome
- Down Syndrome
- Dwarfism
- Ehlers Danlos Syndrome
- Fragile X syndrome
- Genetic Syndromes
- Hearing Loss
- Heart conditions, Hereditary
- Hereditary Hemorrhagic Telangiectasia
- Inborn Errors of Metabolism
- Inherited Skin Disorders
- Kidney Disease, Inherited
- Long QT Syndrome
- Lysosomal Storage Disorders
- Fabry Disease
- Fucosidosis
- Gangliosidosis
- Gaucher Disease
- Hunter Syndrome
- Hurler Syndrome
- Mannosidosis
- Maroteaux-Lamy
- Mucolipidosis
- Niemann-Pick Disease
- Pompe Disease
- Sandhoff Disease
- Sanfillipo Syndrome
- Schindler Disease
- Sialidosis
- Sly Syndrome
- Tay-Sach’s Disease
- Marfan Syndrome
- Mental Retardation
- Mucopolysaccharidosis
- Neurofibromatosis Type 1
- Neurofibromatosis Type 2
- Osteogenesis Imperfecta
- Polycystic Kidney Disease
- Prader Willi Syndrome
- Schwannomatosis
- Skeletal Dysplasias
- Stickler Syndrome
- Tuberous Sclerosis
- Williams Syndrome
UAB Genetics offers genetic counseling for:
- Cancer
- Breast Cancer
- Colon Cancer
- Cowden Syndrome
- Genetic Risk for Cancer
- Melanoma Cancer
- Ovarian Cancer
- Pancreatic Cancer
- Parathyroid Tumors
- Pheochromocytoma
- Thyroid Cancer
- Uterine Cancer
- Carrier Testing, Genetic
- Cleft Lip or Palate
- Craniofacial Disorders
- Family History of Genetic Disease
- Cystic Fibrosis
- Huntington’s Disease
- Muscular Dystrophy
- Sickle Cell Disease
- Many Others
- Genetic Risk Assessment
- Hearing Loss
- Miscarriage
- Pregnancy Genetics Evaluation
- Pre-pregnancy Genetics Evaluation
- Ultrasound Anomalies
Services Provided
UAB Genetics offers evaluation and counseling for a wide variety of genetic conditions. Some additional services provided, including genetic tests, are listed below.
- Acylcarnitines
- Amino Acids
- Array, Comparative Genomic Hybridization (Array CGH)
- Carnitine Analysis
- Carrier Testing for Genetic Conditions
- Cell line Development
- Growth and Storage
- Chromosome Analysis
- Chromosome Analysis, Cancer
- Chromosome Analysis, Prenatal
- Creatine Analysis
- FISH Analysis
- Lysosomal Storage Disorders, Testing
- Fabry Disease
- Fucosidosis
- Gangliosidosis
- Gaucher Disease
- Hunter Syndrome
- Hurler Syndrome
- Mannosidosis
- Maroteaux-Lamy
- Morquio Syndrome
- Mucolipidosis
- Pompe Disease
- Sandhoff Disease
- Sanfillipo Syndrome
- Schindler Disease
- Sialidosis
- Sly Syndrome
- Tay-Sach’s Disease
- Molecular Genetic Testing
- Atypical teratoid/Rhabdoid Tumor Predisposition
- Autosomal Recessive Polycystic Kidney Disease (ARPKD)
- Factor II (Prothrombin)
- Factor V Leiden
- Fragile X
- Hemochromatosis
- MCAD
- Neurofibromatosis 1
- Neurofibromatosis 2
- PTEN
- Schwannomatosis
- SPRED1
- Von Hippel-Lindau Disease (VHL)
- Mucopolysaccharides
- Oligosaccharides
- Organic Acids
- Polyol Analysis
- Skin Biopsy for Cell Line Development
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