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Rong Mao, M.D.

last modified 2013-08-09 10:36 — by Anna Peters

Assistant Professor (Clinical), University of Utah Pathology

Medical Director, Molecular Genetics, ARUP Laboratories

Program Director, Molecular Genetics Training Program, University of Utah, Medical Genetics Div.

Scholarly Emphasis: Molecular Genetics
Rong Mao, M.D.

Rong Mao M.D.

Contact Info

Email Address: rong.mao [at]

Office Phone Number: (801) 583-2787 x3165

Supporting Staff:   Anthony Adams  

Personal Website: Click Here



  • 1989 -1992 Research Assistant, Department of Pathology, Beijing Union Medical College, Beijing, P. R. China
  • 1992 -1998 Clinical Specialist, Molecular Diagnostics Section of Genetics, Rush Presbyterian-St. Luke's Medical Center, Chicago, IL
  • 2000 -2003 Assistant Laboratory Director/Research Associate, University of Utah School of Medicine, Department of Obstetrics & Gynecology, DNA Diagnostic Laboratory, Salt Lake City, UT
  • 2000 Associate Consultant, Molecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN
  • 2002 - Present Co-Director, University of Utah School of Medicine, , Molecular Genetics Training Program, Medical Genetics Division, Salt Lake City, UT
  • 2003 - Present Faculty, ARUP, Molecular Pathology Fellowship Training Program, Salt Lake City, UT
  • 2003 -2004 Associate Medical Director, Molecular Genetics, ARUP Laboratories, Salt Lake City, UT
  • 2003 -2004 Adjunct Assistant Professor of Pathology, University of Utah School of Medicine, Salt Lake City, UT
  • 2004 - Present Co-Medical Director, ARUP Laboratories, Salt Lake City, UT
  • 2006 - Present Assistant Professor of Pathology, University of Utah School of Medicine, Salt Lake City, UT

About Rong Mao, M.D.

Dr. Mao is medical director in the molecular genetics section at ARUP and program director for the clinical molecular genetics fellowship training program. Previously, Dr. Mao served as the assistant laboratory director of the DNA Diagnostic Laboratory at the University of Utah Health Sciences Center and as a consultant for the Molecular Genetics Laboratory at the Mayo Clinic. As a clinical specialist, Dr. Mao helped establish the molecular diagnostics section of genetics at Rush Presbyterian - St. Luke's Medical Center in Chicago. Dr. Mao is certified by the American Board of Medical Genetics with a subspecialty in clinical molecular genetics, and the New York State Department of Health with a subspecialty in genetic testing.

Dr. Mao has focused her research efforts on  (1) Disease associated genes/genes for congenital hearing loss; (2) Mutation scanning methods; (3) Genetic imprint defects and methylation associated diseases (4) Alpha-1- antitrypsin (AAT) deficiency, genotype-phenotype correlation (5) Mutation detection for Metabolic disorders.

Selected Publications

  • Mao R, O'Brien JF, Rao S, Schmitt E, Roa B, Feldman GL, Spence WC, Snow K. (2001). Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays. Mol Genet Metab, 72(3), 248-53.
  • Mao R, Aylsworth AS, Potter N, Wilson WG, Breningstall G, Wick MJ, Babovic-Vuksanovic D, Nance M, Patterson MC, Gomez CM, Snow K. (2002). Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Am J Med Genet, 110(4), 338-45.
  • Mao R, Nelson L, Kates R, Miller C, Donaldson D, Tang W, Ward K. (2004). Pitfalls in prenatal diagnosis of the 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) due to complicated gene conversion and rearrangements. Prenatal Diagnosis, (22), 1171-6.
  • Mao R, McDonald J, Cantwell M, Tang W, Ward K. (2005). The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses. Genet Test, 9(2), 121-5.
  • Margraf RL, Mao R, Highsmith WE, Holtegaard LM, Wittwer CT. (2006). Mutation scanning of the RET protooncogene using high-resolution melting analysis. Clin Chem, 52(1), 138-41.
  • Liew M, Nelson L, Margraf R, Mitchell S, Erali M, Mao R, Lyon E, Wittwer C. (2006). Genotyping of human platelet antigens 1 to 6 and 15 by high-resolution amplicon melting and conventional hybridization probes. J Mol Diagn, 8(1), 97-104.
  • Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R. (2006). Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am J Med Genet A, 140(5), 463-70.
  • Margraf RL, Mao R, Wittwer CT. (2006). Masking selected sequence variation by incorporating mismatches into melting analysis probes. Hum Mutat, 27(3), 269-78.
  • Procter M, Chou LS, Tang W, Jama M, Mao R. (2006). Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification. Clin Chem, 52(7), 1276-83.
  • Wang C, Mao R, Van De Casteele M, Pipeleers DG, Ling Z. (2006). Glucagon-like Peptide-1 Stimulates GABA Formation by Pancreatic Beta Cells at Level of Glutamate Decarboxylase. Am J Physiol Endocrinol Metab.
  • All Publications: Click Here

Honors and Awards

  • 1992, Outstanding Poster Presentation Prize, Molecular Pathology Annual Meeting, Beijing, China
  • 1984, 1985, 1986,1987, Best Student Award, Capital University of Medicine, Beijing, China

Professional Education

  • 1992, M.D., Molecular Pathology, Beijing Union Medical College, Beijing, P. R. China
  • 1987, M.S., Capital University of Medicine, Beijing, P. R. China