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Xiaofeng Hu, MD, PhD

Board Certifications

Laboratory Genetics and Genomics


Molecular Genetics , Clinical Cytogenetics




ProPath, a Sonic Healthcare anatomic pathology practice, is privileged to include Xiaofeng Hu, M.D., Ph.D., F.A.C.M.G., as a part of its dynamic medical staff. Dr. Hu is a board-certified pathologist and ProPath’s clinical director of cytogenetics.

Dr. Hu earned her medical degree from Tongji Medical University in Wuhan, China, where she also received her master’s degree. She graduated with her doctoral degree from the National Ophthalmic Research Institute and Erasmus University in the Netherlands. She completed a postdoctoral fellowship at the Institute of Molecular Cardiology at the University of Louisville, Kentucky. This was followed by a fellowship in clinical cytogenetics and molecular genetics at the Human Genetic Center and Tulane Medical School in New Orleans, Louisiana.

Dr. Hu has extensive professional experience in a wide variety of settings. She held multiple appointments at Tongji Medical University where she was an assistant lecturer in the medical genetics department, an assistant professor of pediatrics and director of the cytogenetics lab of the pediatrics department. She was then promoted to associate professor of pediatrics and chief of the department of medical genetics. She was also an attending pediatrician at Tongji Hospital in Wuhan, China. Following her postgraduate training, Dr. Hu held an appointment as assistant professor and assistant director of the cancer genetics lab at Baylor College of Medicine in Houston, Texas. She has been the clinical director of the cytogenetics labs at Sonora Quest Lab in Arizona, TriCore Lab in New Mexico, and is currently clinical director of the cytogenetics lab at ProPath.

Dr. Hu has published over 40 peer-reviewed articles in medical and scientific journals such as Cancer Genetics, Journal of Molecular Diagnostics, International Journal of Cardiology, and Human Molecular Genetics, among many others. She has a book chapter in Modern Clinical Molecular Techniques and a book, Analysis of ABCC6: Elucidation of the Molecular Pathology of Pseudoxanthoma Elasticum.



Tongji Medical University (MD)
Wuhan, China

Tongji Medical University (MS)
Wuhan, China

Erasmus University (PhD)
National Ophthalmic Research University
Rotterdam, Netherlands


Postgraduate Training

Clinical Cytogenetics and Molecular Genetics Fellowship
Human Genetic Center
Tulane Medical School
New Orleans, LA

Postdoctoral Fellowship
Institute of Molecular Cardiology
University of Louisville
Louisville, KY


Professional Memberships

American College of Medical Genetics, Fellow

American Society of Human Genetics

Association for Molecular Pathology


Peer-Reviewed Articles
  1. Li MM, Monzon FA, Biegel JA, Jobanputra V, Laffin JJ, Levy B, Leon A, Miron P, Rossi MR, Alvarez K, Doho K, Dougherty MG, Hu X, Kash S, Streck D, Znoyko L, Hagenford JM, Wolff DJ. A multicenter, cross-platform clinical validation study of cancer cytogenomic arrays. Cancer Genet. 2015;208(11):525-536.

  2. Ledet EM, Hu X, Sartor O, Rayford W, Li M, Mandal D. Characterization of germline copy number variation in high-risk African American families with prostate cancer. Prostate. 2013;73(6):614-623.

  3. Song J, Mercer D, Hu X, Liu H, Li MM. Common leukemia- and lymphoma-associated genetic aberrations in healthy individuals. J Mol Diagnostics. 2011;13(2):213-219.

  4. Xiang B, Zhu H, Shen Y, Miller DT, Lu K, Hu X, Andersson HC, Naramuchi TM, Wang Y, Martinez JE, Wu BL, Li P, Li MM, Chen TJ, Fan YS. Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation. J Mol Diagn. 2010;12(2):204-212.

  5. Hu X, Dai S, Wu W-J, et al. Stromal cell-derived factor-1α confers protection against myocardial ischemia/reperfusion injury role of the cardiac stromal cell-derived factor-1α CXCR4 axis. Circulation. 2007;116(6):654-663.

  6. Bergen AAB, Plomp AS, Hu X, De Jong PTVM, Gorgels TGMF. ABCC6 and pseudoxanthoma elasticum. Pflugers Arch Eur J Physiol. 2007;53(5):685-691.

  7. Wegman JJ, Hu X, Tan H, et al. Patients with premature coronary artery disease who carry the ABCC6 R1141X mutation have no Pseudoxanthoma Elasticum phenotype. Int J Cardiol. 2005;100(3):389-393.

  8. Gorgels TGMF, Hu X, Scheffer GL, et al. Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet. 2005;14(13):1763-1773.

  9. Fu S, Dong J, Chen G, Hu X. Mitochondrial DNA mutation and aminoglycoside antibiotic induced deafness. Chinese J Birth Heal Hered. 2004;4:6-8.

  10. Hu X, Plomp A, Grogels T, et al. Efficient molecular diagnostic strategy for ABCC6 in pseudoxanthoma elasticum. Genet Test. 2004;8(3):292-300.

  11. Fu S, Hu X, Chen G. Mutation of 235delC in connexin26 gene in patients with congenital hearing impairment. Matern Child Heal Care China. 2004;19(2):60-61.

  12. Plomp AS, Hu X, de Jong PTVM, Bergen AAB. Does autosomal dominant pseudoxanthoma elasticum exist? Am J Med Genet A. 2004;126A(4):403-412.

  13. Teng Y, Wang W, Tian H, Wang H, Hu X, Chen Y. Autosomal dominant retinitis pigmentosa in a five-generation pedigree in People’s Republic of China. Eye. 2003;17(9):1036-1039.

  14. Teng Y, Tian H, Wang H, Hu X, Chen Y, Yang Z, Wang W. Screening of candidate genes in a family with autosomal dominant retinitis pigmentosa. Zhonghua Yi Xue Yi Chuan Xue Za Zhi [Chinese J Med Genet.] 2003;20(2):164-166.

  15. Hu X, Plomp A, Wijnholds J, et al. ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum. Eur J Hum Genet. 2003;11(3):215-224.

  16. Teng Y, Tian H, Wang H, Hu X, Wang W, Chen Y, Yang Z. Mutation identification in a 5-generation pedigree with autosomal dominant retinitis pigmentosa. J Huazhong Univ Sci Technol [Med Sci]. 2003;23(3):242-244.

  17. Hu X, Peek R, Plomp A, et al. Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. Investig Ophthalmol Vis Sci. 2003;44(5):1824-1829.

  18. Hu X, Plomp AS, van Soest S, Wijnholds J, De Jong PTVM, Bergen AAB. Pseudoxanthoma elasticum: A clinical, histopathological, and molecular update. Surv Ophthalmol. 2003;48(4):424-438.

  19. Trip MD, Smulders YM, Wegman JJ, Hu X, Boer JM, ten Brink JB, Zwinderman AH, Kastelein JJ, Feskens EJ, Bergen AA. Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Circulation. 2002;106(7):773-775.

  20. Chen G, Guo Z, Fu S, Cui Y, Hu X. An etiological study on hearing loss of 813 deaf students in Hubei province. J Audiol Speech Pathol. 2002;10(4):229-231.

  21. Scheffer GL, Hu X, Pijnenborg ACLM, Wijnholds J, Bergen AAB, Scheper RJ. MRP6 (ABCC6) Detection in Normal Human Tissues and Tumors. Lab Invest. 2002;82(4):515-518.

Book Chapters
  1. Li M, Patel A, Hu X. Clinical applications of microarrays in cancer. In: Hu P, Hegde M, Lennon A, eds. Modern Clinical Molecular Techniques. New York: Springer; 2012:307-322.

  1. Hu X. Analysis of ABCC6: Elucidation of the Molecular Pathology of Pseudoxanthoma Elasticum. Netherlands: University of Erasmus; 2003. ISBN 9057761130.