CLIA Molecular Diagnostics Laboratory

• Thermo Fisher Scientific SeqStudio 24 Flex Genetic Analyzer
• Illumina NovaSeq6000, NovaSeq X Plus Sequencing Systems
• Illumina MiSeqDx for Next-Generation Sequencing (NGS)
• Leica BondRx stainer for RNAScope assays
• Qiagen QIAcuity Digital PCR System
• Thermo Fisher QuantStudio for qPCR
• Illumina NextSeq2000 Sequencing System for Next-Generation Sequencing (NGS)
• Bio-Rad QX200 for Droplet Digital PCR (ddPCR)
• Beckman FXp, Hamilton ML Prep robotic liquid handlers for automation
• Microm Microtome for sectioning formalin fixed paraffin embedded (FFPE) tissues
• Agilent 4200 Tape Station Automated Electrophoresis System
• KingFisher Flex for automated nucleic acid extractions

NIH Investigators may place a formal request for our lab's services at https://ncifrederick.cancer.gov/services/accessioning/Home/SignIn?ReturnUrl=%2fservices%2faccessioning%2f. Open to NIH investigators (outside of NCI) on a case-by-case basis.

• VHL Gene Fragment Analysis: Large Inversion Detection in Alu Region for Clinical Applications. https://doi.org/10.1136/jmg-2026-111493. Ryan N. Baugher, Stephanie D. Mellott, Kristen M. Pike, Todd B. Young, Heidi E. Lawhorn, Stephen M. Hewitt. Journal of Medical Genetics, jmg-2026-111493.R1, April 24, 2026.
• UGT1A1 Fragment Analysis: Genotyping the (TA)n Variable Repeat Polymorphism for Clinical Applications. http://doi.org/10.1002/jcla.70214. Ryan N. Baugher, Kristen M. Pike, Teri M. Plona, Stephanie D. Mellott, Todd B. Young, Heidi E. Lawhorn, Stephen M. Hewitt. Journal of Clinical Laboratory Analysis 40(12):e70214, March 29, 2026.
• Circulating plasma EBV DNA: a potential tool to facilitate diagnosis of pediatric Burkitt lymphoma in sub-Saharan Africa. https://doi.org/10.1016/j.bglo.2025.100025. Karena Volesky-Avellaneda, Rena R. Xian, Todd B. Young, Ryan N. Baugher, Martin D. Ogwang, Patrick Kerchan, Steven J. Reynolds, Constance N. Tenge, Pamela A. Were, Robert T. Kuremu, Walter N. Wekesa, Nestory Masalu, Esther Kawira, Stephanie D. Mellott, Heidi E. Lawhorn, Kristen M. Pike, Jennifer Stone, Laura Walsh, Tobias Kinyera, Isaac Otim, Hadijah Nabalende, Herry Dhudha, Leona W. Ayers, Kishor Bhatia, James J. Goedert, Daniel R. Soppet, Stephen M. Hewitt, Hyokyoung G. Hong, Richard F. Ambinder, Sam M. Mbulaiteye. Blood Global Hematology 2025; 1 (3): 100025.
• Frameshift mutations in peripheral blood as a biomarker for surveillance of Lynch syndrome. https://doi.org/10.1093/jnci/djae060. Yurong Song, Holli Loomans-Kropp, Ryan N Baugher, Brandon Somerville, Shaneen S Baxter, Travis D Kerr, Teri M Plona, Stephanie D Mellott, Todd B Young, Heidi E Lawhorn, Lei Wei, Qiang Hu, Song Liu, Alan Hutson, Ligia Pinto, John D Potter, Shizuko Sei, Ozkan Gelincik, Steven M Lipkin, Johannes Gebert, Matthias Kloor, Robert H Shoemaker. JNCI: Journal of the National Cancer Institute, Volume 116, Issue 6, Pages 957u2013965. Published: 11 March 2024
• Organoids and metastatic orthotopic mouse model for mismatch repair-deficient colorectal cancer. https://doi.org/10.3389/fonc.2023.1223915. Yurong Song, Travis D. Kerr, Chelsea Sanders, Lisheng Dai, Shaneen S. Baxter, Brandon Somerville, Ryan N. Baugher, Stephanie D. Mellott, Todd B. Young, Heidi E. Lawhorn, Teri M. Plona, Bingfang Xu, Lei Wei, Qiang Hu, Song Liu, Alan Hutson, Baktiar Karim, Sandra Burkett, Simone Difilippantonio, Ligia Pinto, Johannes Gebert, Matthias Kloor, Steven M. Lipkin, Shizuko Sei and Robert H. Shoemaker. Frontiers in Oncology 2023, 13, 1-17. Published: 08 September 2023.
• Mesothelioma Mouse Models with Mixed Genomic States of Chromosome and Microsatellite Instability. https://doi.org/10.3390/cancers14133108. Yurong Song, Shaneen S. Baxter , Lisheng Dai, Chelsea Sanders, Sandra Burkett, Ryan N. Baugher , Stephanie D. Mellott, Todd B. Young, Heidi E. Lawhorn, Simone Difilippantonio, Baktiar Karim, Yuwaraj Kadariya, Ligia A. Pinto, Joseph R. Testa and Robert H. Shoemaker. Cancers 2022, 14, 3108. Published: 24 June 2022
• Kajal Biswas, Martin Couillard, Luca Cavallone, Sandra Burkett, Stacey Stauffer, Betty Martin, Eileen Southon, Susan Reid, Teri Plona, Ryan Baugher, Stephanie Mellott, Kristen Pike, Mary Albaugh, Chelsea Maedler-Kron, Nancy Hamel, Lino Tessarollo, Victoria Marcus, William Foulkes, and Shyam Sharan: A Novel Mouse Model of PMS2 Founder Mutation that Causes Mismatch Repair Defect Due to Aberrant Splicing. Cell Death & Disease, DOI 10.1038/s41419-021-04130-8 Paper #CDDIS-21-1697RR], September 6, 2021.
• Tristan M. Sissung, Roberto H. Barbier, Douglas K. Price, Teri M. Plona, Kristen M. Pike, Stephanie D. Mellott, Ryan N. Baugher, Gordon R. Whiteley, Daniel R. Soppet, David Venzon, Arlene Berman, Arun Rajan, Giuseppe Giaccone, Paul Meltzer, and William D. Figg: Comparison of Eight Technologies to Determine Genotype at the UGT1A1 (TA)n Repeat Polymorphism: Potential Clinical Consequences of Genotyping Errors? International Journal of Molecular Sciences, 2020.
• Tristan M. Sissung, Ph.D., M.S., Jon W McKeeby, D.Sc., Jharana Patel, PharmD, Juan J. Lertora, M.D., Ph.D., Parag Kumar, PharmD, Willy A Flegel, M.D., Sharon D. Adams, M.D., Ellen J Eckes, MSN, ARNP, FNP-BC, Frank Mickey, MBA, Teri M. Plona, BA, Stephanie D. Mellott, BS, Ryan N. Baugher, BA, Xiaolin Wu, PhD, Daniel R. Soppet, PhD, Mary E. Barcus, MD, Vivekananda Datta, MD, PhD, Kristen M. Pike, MS, Gary DiPatrizio, PharmD, William D. Figg, PharmD, MBA, and Barry R. Goldspiel, PharmD: PHARMACOGENOMICS IMPLEMENTATION AT THE NATIONAL INSTITUTES OF HEALTH CLINICAL CENTER. THE JOURNAL OF CLINICAL PHARMACOLOGY, 2017.