Jing Wang, MD, DABMGG, FACMG, ASCP (MB)
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
3615 Civic Center Blvd
Philadelphia, PA 19104-4318
Office: 2676933441
Education:
MD
Sun Yat-sen University of Medical Sciences, China, 1986.
M.Sc. (Medical Genetics)
Sun Yat-sen University of Medical Sciences, China, 1989.
Permanent linkMD
Sun Yat-sen University of Medical Sciences, China, 1986.
M.Sc. (Medical Genetics)
Sun Yat-sen University of Medical Sciences, China, 1989.
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
Ganetzky R, Stanley KD, MacMullen LE, George-Sankoh I, Wang J, Goldstein A, Xiao R, Falk MJ: Recognizing the evolution of clinical syndrome spectrum progression in individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS). Genet Med February 2025.Burrill N; Crane H; Khalek N; Soni S; K. Wild T; Skraban C; McManus M; Szigety K; Oliver ER; Fisher A; Wang J; Moldenhauer JS.: Two Prenatal Presentations of Baraitser-Winter Syndrome: Expansion of the Prenatal Phenotype of this New Multiple Congenital Anomaly Syndrome. Am J Med Genet A. Hoboken, N.J. : Wiley-Liss, c2003- 194(10): No page number, October 2024.
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, 69(6): 564-584, June 2023.
Chan A, Wang J: Mitochondrial DNA deletion or duplication? Identification of a copy number variant in mitochondrial DNA using next generation sequencing. American College of Medical Genetics conference, Salt Lake City, UT Not available(Not available), March 2023 Notes: Oral presentation.
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, January 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.
wang J: Advanced approaches for comprehensive mtDNA testing of mitochondrial disorders. American College of Medical Genetics conference, virtual meeting Not available(Not available): No page number, April 2021 Notes: Platform presentation.
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.
Wang J: Panels vs. Exome: A Comparison of Genetic Testing Options for Neurodevelopmental Disorders. American Academy of Neurology Conference, Los Angeles, CA Not available(Not available), April 2018 Notes: Platform presentation.