Jing Wang, MD, FACMG, ASCP (MB)

faculty photo
Associate Professor of Clinical Pathology and Laboratory Medicine
Department: Pathology and Laboratory Medicine

Contact information
ARC Suite 716
3615 Civic Center Blvd
Philadelphia, PA 19104-4318
Office: 2676933441
Sun Yat-sen University of Medical Sciences, China, 1986.
M.Sc. (Medical Genetics)
Sun Yat-sen University of Medical Sciences, China, 1989.
Permanent link
> Perelman School of Medicine   > Faculty   > Details

Description of Clinical Expertise

The main role of my clinical service is to provide integrated genomic testing to clinicians. I am particularly interested in neurodevelopmental disorders and mitochondrial disorders. We have developed using single long-range PCR followed by NGS for mitochondrial genome analysis, which can simultaneously detect mtDNA point mutations, small indels, provide accurate heteroplasmy level. It is also a highly sensitive assay to detect mtDNA large deletion and multiple deletions. This assay has been widely adapted by clinical diagnostic laboratories and become a new gold standard for mtDNA analysis.

Selected Publications

Gill EL, Wang J, Viaene AN, Master SR, Ganetzky RD.: Methodologies in Mitochondrial Testing: Diagnosing a Primary Mitochondrial Respiratory Chain Disorder Clinical Chemistry Oxford University Press, 2023 Notes: Accepted.

Wang J, Balciuniene J, Diaz-Miranda MA, McCormick EM, Aref-Eshghi E, Muir AM, Cao K, Troiani J, Moseley A, Fan Z, Zolkipli-Cunningham Z, Goldstein A, Ganetzky RD, Muraresku CC, Peterson JT, Spinner NB, Wallace DC, Dulik MC, Falk MJ: Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease. Mol Genet Metab 135(1): 93-101, Jan 2022.

Patel T, Henrickson SE, Moser EK, Field NS, Maurer K, Dawany N, Conrad M, Bunin N, Freedman JL, Heimall J, Arnold DE, Wang J, Markowitz JE, Payne-Poff SB, Williams KW, Russo PA, Wherry EJ, Devoto M, Oliver P, Sullivan KE, Kelsen J: Immune Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation. J Allergy Clin Immunol Pract 9(7): 2885-2893, July 2021.

Wong LC, Chen T, Schmitt ES, Wang J, Tang S, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. : Clinical and laboratory interpretation of mitochondrial mRNA Hum Mutat July 2020.

Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ.: Interpretation of mitochondrial tRNA variants. Genet Med January 2020.

Kartvelishvili, E., Tworowski, D., Vernon, H., Moor, N., Wang, J., Wong, L.J., Chrzanowska-Lightowlers, Z., Safro, M. : Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2. Protein Sci. 26(8): 1505-1516, Aug 2017.

Tsai, A.C.H., Hung, Y.W., Harding, C., Koeller, D.M., Wang J., Wong, L.J.C. : Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease. American Journal of Medical Genetics, Part A 173(9): 2500-2504, 2017.

Dai, H., Zhang, V. W., El-Hattab, A. W., Ficicioglu, C., Shinawi, M., Lines, M., Schulze, A., McNutt, M., Gotway, G., Tian, X., Chen, S., Wang, J., Craigen, W. J., Wong, L. J.: FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 91(4): 634-639. doi: 10.1111/cge.12894. Epub 2017 Jan 5. 2017.

Li, J., Tang, J., Feng, Y., Xu, M., Chen, R., Zou, X., Sui, R., Chang, E.Y., Lewis, R.A., Zhang, V.W., Wang, J., Wong, L.C.: Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing. J Mol Diagn. 18(6): 817-824. . Nov; Epub 2016 Sep 10. 2016 Notes: doi: 10.1016/j.jmoldx.2016.06.007.

Wang, X., Feng, Y., Li, J., Zhang, W., Wang, J., Lewis, R.A., Wong, L.J.: Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis. PLoS One. 11(10): e0165405. Oct 27 2016 Notes: doi: 10.1371/journal.pone.0165405. eCollection 2016.

back to top
Last updated: 03/10/2023
The Trustees of the University of Pennsylvania