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Biochemical Genetics Diagnostic Laboratory
University of Miami
Contact UsHours of operation:
8 a.m. to 5 p.m. Monday - Friday
STAT testing is available 24/7 for in-house tests. Please note that additional charges may apply.
Laboratory and Shipping Address:
Biochemical Genetics Diagnostic LaboratoryUniversity of Miami Miller School of Medicine
Mailman Center for Child DevelopmentRoom 6006A
1601 NW 12th AvenueMiami, FL 33136
Phone: (305) 243-5450Fax: (305) 243-5451
Email: [email protected] #: 10D2031737
FL License #: 800026334
VISIT OUR WEB SITEmedgen.med.miami.edu/bgdl
Olaf Bodamer, M.D., Ph.D., FACMG, FAAPMedical Director
Parul Jayakar, M.D., M.S., FACMG
Laboratory Director
Omar deArmas, B.S.,MTS
Laboratory Supervisor
Britt Johnson, Ph.D.,FACMG
Laboratory Scientist
Angela Dajnoki, M.S.Research Scientist
Deborah Paul, C.P.C.Medical Billing Manager
Helene Klapper, M.S., C(ASCP)CMQLC Senior Laboratory Associate
OUR SERVICESThe Biochemical Genetics Diagnostic Laboratory (BGDL) at the University of Miami is at the nexus of clinical medicine and biochemical genetics research, where the bench meets the bedside, providing vital expertise in the era of genomic medicine and its diagnostic applicability. We are a Clinical Laboratory Improvement Amendments (CLIA)-certified lab and participate in proficiency testing through the College of American Pathologists (CAP) and European Research Network for evaluation and improvement of screening, Diagnosis and treatment of Inherited disorders of Metabolism (ERNDIM).
WHY CHOOSE THE BGDL?• High-quality analytic services• Medical expertise• Short turnaround time• STAT testing available around the clock
RESEARCHWe currently collaborate with the University of Miami departments of Biochemistry, Biology, and the John P. Hussman Institute for Human Genomics. If you are interested in the analysis of small metabolites using one of our available analytic techniques, please contact Angela Dajnoki at [email protected].
METHODOLOGIES The BGDL is equipped with modern instruments and methods to meet all of your diagnostic needs, including:• Tandem mass spectrometry - The BGDL has a triple quadrupole tandem mass spectrometer equipped with HPLC for high sensitivity and accurate results.
• Gas chromatography/Mass spectrometry - Our GC/MS is equipped with a triple axis detector, auxillary EPC module for backflushing, and AMDIS deconvolution software. This greatly reduces background and enhances our sensitivity to detect abnormal metabolites in urine.
• High performance liquid chromatography - The lab is equipped with a Physiological Amino Acid Analyzer, the industry standard for amino acid detection.
• Spectrophotometry - Our multi-mode microplate reader allows us to perform metabolite and enzyme assays using absorbance or fluorescence detection, rapidly and efficiently.
• Isoelectric focusing - Our GE PhastGel System performs isoelectric focusing of serum proteins.
HOW TO ORDER A TEST• To set up an institutional account, please contact the medical genetics billing office at (305) 243-6583 or [email protected] to obtain a client ID.
• Forspecimenrequirementsandshippingcondi-tions for the desired test(s), please refer to the test information located on the BGDL website.• ForSTATtestingafterhours,pleasepagethelabdirector before sending the sample at (305) 277-1428.• Labelthespecimentubeswiththepatient’snameand date of birth.• PleasefillouttheBGDLrequistionform(http://medgen.med.miami.edu/bgdl) and submit it with the sample(s).
AVAILABLE DIAGNOSTIC TESTING Amino acids Fatty acid metabolism Organic acids Sterol metabolism Acylcarnitines Galactosemia Creatine metabolism Lysosomal enzymes
For a detailed test list, please visit our website at:http://medgen.med.miami.edu/bdgl. Some tests are performed in collaboration with Baylor Medical Genetics Laboratories and Mayo Medical Laboratories.
