Clinical Biochemical Genetics Diagnostic Laboratory

Clinical Biochemical Genetics Diagnostic Laboratory, CBGDL
University Of Miami Miller School Of Medicine
Department: Human Genetics
1601 NW 12th Ave, MCCD Room 6006A (D820)
Miami, Florida, United States 33136
Phone: 305-243-5450
Fax: 305-243-5451
Email: biochemgenlab@med.miami.edu
Website: http://medgen.med.miami.edu/bgdl
Affiliated with:
- Division of Clinical and Translational Genetics Clinical Services, http://medgen.med.miami.edu/clinical-and-translational-genetics/clinical-services

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GTR Lab ID: 282343, Last updated:2023-10-09

Personnel

Director: Mustafa Tekin, MD, FACMG, Lab Director
Phone: 305-243-2381
Fax: 305-243-3919
Email: MTekin@med.miami.edu
Guney Bademci, MD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Staff
Phone: +1 305-243-5450
Email: g.bademci@med.miami.edu
Jingyu Huang, PhD, Lab Associate Director
Phone: 305-243-4856
Fax: 305-243-5451
Email: jxh951@med.miami.edu

Conditions and tests

48 conditions/phenotypes with 47 tests
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3-methylglutaconic aciduria type 11 test
Arginase deficiency1 test
Argininosuccinate lyase deficiency1 test
Biotinidase deficiency1 test
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency1 test
Carnitine palmitoyltransferase II deficiency1 test
Citrullinemia type I1 test
Classic homocystinuria1 test
Classical galactosemia, homozygous Duarte-type1 test
Congenital anomaly of eye1 test
Connective Tissue and Aortopathy Panel1 test
D-sorbitol response1 test
Deficiency of 2-methylbutyryl-CoA dehydrogenase1 test
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
Deficiency of acetyl-CoA acetyltransferase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of isobutyryl-CoA dehydrogenase1 test
Deficiency of malonyl-CoA decarboxylase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Developmental cataract1 test
Ethylmalonic encephalopathy1 test
Familial hypercholesterolemia1 test
Glaucoma of childhood1 test
Glutaric aciduria, type 11 test
Hearing Loss/Deafness1 test
Holocarboxylase synthetase deficiency1 test
Isovaleryl-CoA dehydrogenase deficiency1 test
Maple syrup urine disease1 test
Medium chain 3-ketoacyl-Coa thiolase deficiency1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Methylcrotonyl-CoA carboxylase deficiency1 test
Methylmalonic acidemia1 test
Mitochondrial trifunctional protein deficiency2 tests
Multiple acyl-CoA dehydrogenase deficiency1 test
Neurofibromatosis, type 11 test
Neuronopathy, distal hereditary motor, autosomal recessive 81 test
Overgrowth Panel1 test
Phenylketonuria1 test
Propionic acidemia1 test
Renal carnitine transport defect1 test
Stickler syndrome1 test
Tyrosinemia type I1 test
Tyrosinemia type II1 test
Tyrosinemia type III1 test
UDPglucose-4-epimerase deficiency1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test

List of services

This lab has no services.

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 10D2031737, Expiration date: 2024-07-28

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