The Robert Guthrie Biochemical & Molecular Genetics Laboratory performs over 5,000 specialized diagnostic tests annually for inborn errors of metabolism with a particular emphasis on metabolic myopathies and mitochondrial disease.
The Laboratory is located at The Buffalo General Medical Center - Kaleida Health System, and is part of the Clinical Laboratories-Genetics in the Division of Genetics, Department of Pediatrics, Jacobs 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 # 33D0685375. The laboratory is also certified by the State of Pennsylvania Department of Public Health. While a wide spectrum of diagnostics tests and profiles are offered, the laboratory specializes in the diagnostic evaluation of metabolic muscle diseases, particularly mitochondrial myopathies, glycogen storage diseases, 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.
About the Director
Dr. Paul J. Isackson, Director of the laboratory since June 2017, has been a technical laboratory director of this laboratory and an Associate Research Professor of Pediatrics in the Jacobs School of Medicine & Biomedical Sciences, State University of New York at Buffalo since 2007. Dr. Isackson holds a Certificate of Qualification for Genetic Testing from the New York State Department of Health. Dr. Isackson has previously held faculty positions at the University of California, Irvine and the Mayo Clinic Jacksonville, Florida. Dr. Isackson has published more than 90 scientific manuscripts about the molecular biology and regulation of neurotrophic factors and kallikreins in the nervous system and more recently regarding metabolic muscle diseases and genetic risk for statin myopathy. The research interests of the Director and others in the laboratory may be found in the News & Research section.
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, email 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 and consent 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 all relevant laboratory data for both children and adult patients. This could include plasma lactate, ammonia, and creatine kinase and in some cases plasma amino acids and urine organic acid findings. 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 and informed consent forms signed by the patient. 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.