About RGBGL About the Director Before Contacting the Laboratory Contact Information
		ABOUT RGBGL  The Robert Guthrie Biochemical Genetics Laboratory at The Buffalo General Hospital,- Kaleida Health System, is a specialized laboratory performing over 3,000 tests annually for inborn errors of metabolism. The laboratory is part of the Clinical Laboratories-Genetics in the Division of Genetics, Department of Pediatrics, School of Medicine & Biomedical Sciences, State University of New York at Buffalo. The laboratory is certified by the New York State Department of Public Health and operates under Interstate CLIA License # 33D0898908. While a wide spectrum of over 50 diagnostics tests are offered, the laboratory specializes in the diagnostic evaluation of metabolic muscle diseases, particularly the mitochondrial myopathies, the glycogen storage diseases, purine cycle defects, and fatty acid transport disorders such as carnitine palmitoyltransferase deficiency. The main goal of the laboratory is to provide comprehensive diagnostic testing that will facilitate the arrival at a final diagnosis for the patient through coordination with clinical, histochemical and molecular findings. Clinical evaluation and treatment may be arranged through the local Muscular Dystrophy Association Clinic.      ABOUT THE DIRECTOR Dr. Georgirene D. Vladutiu, Director of the laboratory since 1984, is Professor of Pediatrics, Neurology and Pathology in the School of Medicine & Biomedical Sciences, State University of New York at Buffalo. Dr. Vladutiu is certified by the American Board of Medical Genetics in Clinical Biochemical Genetics and holds a  Certificate of Qualification for Genetic Testing from the New York State Department of Health. She is a member of the Scientific Advisory Board of the United Mitochondrial Disease Foundation and is a member of several professional societies including the American Society of Human Genetics, the Society for Inherited Metabolic Disease, the Society for the Study of Inborn Errors of Metabolism, the Society for Pediatric Research, the American Society for Biochemistry and Molecular Biology, the American Society for Cell Biology, the World Muscle Society, and the Mitochondrial Medicine Society. Dr. Vladutiu has written numerous scientific publications, reviews and book chapters in the field of hereditary metabolic disease. BEFORE CONTACTING THE LABORATORY Patients and Family Members: Please take any information you may find helpful from this website to your family physician to determine the suitability of our test analyses for your particular condition or that of your family member. Please do not contact the laboratory directly. Ask your physician to contact our office either by phone or FAX to determine the appropriateness of testing. This should be done before sending any type of specimens to the laboratory. All specimens sent to the laboratory must include the appropriate test request forms completed and signed by an ordering physician.  Physicians and Healthcare Providers: The complexity of testing for individual metabolic disorders often results in partial defects or combined defects that are difficult to interpret diagnostically. It is essential for us to have all possible sources of supportive data to contribute to the final analysis of our findings. Therefore, we require the inclusion of a clinical summary and any relevant laboratory data for both children and adult patients such as plasma lactate, ammonia, and creatine kinase and in some cases plasma amino acids and urine organic acids. The results of an ischemic exercise test and EMG report are helpful in evaluating metabolic myopathies. In cases where a skeletal or cardiac muscle or liver biopsy has been taken, we require a histopathology report and when performed, an electron microscopy report. All specimens sent to the laboratory must include the appropriate test request forms completed and signed by an ordering physician. Any specimens that arrive in the laboratory without the above required information and completed forms will be placed on "hold" until receipt of the complete information.   CONTACT INFORMATION Address: Robert Guthrie Biochemical Genetics Laboratory Room A-762 100 High Street Buffalo, NY 14203 Phone: (716) 859-7741 Fax: (716) 859-7749         Email: rgbgl@aol.com