biochemical & molecular genetics diagnostic...
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Biochemical & Molecular Genetics Diagnostic
Laboratory University of Miami
Contact UsPhone: (305) 243-5450
Fax: (305) 243-5451 [email protected]
Hours of Operation9:00 AM to 5:00 PM
Monday-Friday
Laboratory & Shipping AddressBiochemical and Molecular Genetics
Diagnostic Laboratory University of Miami Miller School of Medicine
1501 NW 10th Avenue, BRB 535 (M-860) Miami, Florida 33136
Laboratory Licensure CLIA #: 1002031737
FL License #: 800026334
Visit our website: www.medgen.med.miami.edu/bgdl
Mustafa Tekin, M.D.Director, Division of Clinical and Translational Genetics
Jingyu Huang, Ph.D., M.T., C.L.S
Assistant Lab Director, BMGDL
Deborah Paul, C.P.C.Manager, Medical Billing
Lia Breton, M.S., MT(AMT), AHI(AMT), SLS(ASCP), QCYMManager and Regulatory Compliance Officer
Anel Frederick, B.S.LIS Systems Analyst
Mayra Rodriguez, MS, MB (ASCP)
Belkis Alfonso, BS, MT (AMT)
Not pictured
The UM BMGDL TEAM
OUR SERVICESThe Biochemical and Molecular Genetics Diagnostic Laboratory (BMGDL) at the University of Miami is at the nexus of clinical medicine and molecular genetics research, where lab technology meets the bedside, providing vital expertise in the era of genomic medicine and its diagnostic applicability. The BMGDL lab is licensed by the State of Florida, CLIA (Clinical Laboratory Improvement Act) Certified. BMGDL participates in CAP proficiency testing. The laboratory directors are Board Certified by the American Board of Medical Genetics in Molecular, Biochemical and Clinical Genetics. All laboratory personnel are nationally certified and, in addition, licensed by the State of Florida. The high-ranking education level of our laboratory scientists provides our patients with leading edge expertise.
METHODOLOGIES
HOW TO ORDER A TEST• To establish a client account, please contact the medical genetics billing office at (305) 243-6583 or e-mail [email protected]
• For specimen requirements, turn-around time, and fee schedule, please refer to the test information located on the BMGDL website. • Label the specimen tubes with the patient’s first and last name, date of birth, date the specimen was drawn, and the name of the ordering physician. • Please fill out the BMGDL requisition form located on the BMGDL website and submit it with the sample(s).
AVAILABLE DIAGNOSTIC TESTINGBIOCHEMICAL GENETICS TEST LISTAcylcarnitineTotal and Free CarnitueMethylmalonic AcidOrganic Acids Amino Acids, PKU and MSUDSuccinic acetone
MOLECULAR GENETICS TEST LIST GALT-GENE Sequencing AssaySoon to be available- NGS
For a detailed list of specimen requirements and TAT, please visit our website.
RESEARCHWe collaborate with a number of national and international institutions, as well as the John P. Hussman Institute for Human Genomics at the University of Miami to develop new tests based on clinical needs.
If you have specific diagnostic needs, please contact Mustafa Tekin, M.D., via e-mail at [email protected] or via phone at (305) 243-2381.
The BMGDL is equipped with cutting edge, state-of- the-art instruments and methods to meet all of your diagnostic needs, including:
GC/MS: Gas chromatography-mass spectroscopy (GC-MS) is hyphenated analytical technique. It is actually two techniques that are combined to form a single method of analyzing mixtures of chemicals. Gas chromatography separates the components of a mixture and mass spectroscopy characterizes each of the components individually. By combining the two techniques; Biochemical Genetics Testing can qualitatively and quantitatively evaluate the patient sample.
Applied Bio System 3500xL: This system is a technology which is used to perform Sanger Sequencing and gene Fragment analysis. Sanger sequencing data and process automation allows the delivery of cost savings to customers. Capillary sequencing is performed using Big Dye and sequences are delineated with ABI 3500xL platforms.
LC/MS: Liquid Chromatography Mass Spectrometry is an exceedingly sensitive and specific analytical technique that can precisely determine the identities and concentration of compounds within a patient sample. Mass spectrometry coupled with liquid chromatography (LC-MS) delivers variety for Biochemical Genetics Testing which includes: rapid turn-around time, quantitation of trace levels, and screening for a wider range of compounds. Analytic assays include: Acylcarnitine, Total and Free Carnitue, and Methylmalonic Acid.
WHY CHOOSE THE BMGDL?• High-quality analytic services with rapid turn-around time• Superior medical and laboratory expertise • Multiple diagnostic platforms