Challenging Case Studies are presented by trainees or technologists. They will discuss the case's clinical history, molecular analysis, interesting features, and the proposed diagnosis. Other molecular testing methods, if applicable, will be included in the presentation, including biopsies, gross/microscopic pathology, immunohistochemistry/flow cytometry, and cytogenetic findings.
Persistent High Levels of Donor Cells Following Solid Organ Transplant Confirm Diagnosis of Graft
versus Host Disease
Kelly A. Rafferty, PhD, MS, Virginia Commonwealth University, Richmond, VA, USA
Co-occurrence of Mosaic Turner Syndrome and Mosaic Spinal Muscular Atrophy Carrier Status in an
Adult Female
Diana M. Toledo, PhD, MS, CGC, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA
A Rare Occurrence of Three Compound Heterogeneous Mutations of HBB Gene Leading to Bthalassemia Major in a Pakistani Family
Sjjawal Ahmad, Msc, Aga Khan University, Hospital Pakistan, Karachi, Pakistan
When Old Meets New: Sophisticated Interplay of Multiple Technologies to Diagnose a Case of SOPH
Syndrome
Marilena Melas, MSc, PhD, The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide
Children's Hospital, Columbus, OH, USA
Identification of Targetable NUP214-ABL1 Fusion in T-lymphoblastic Leukemia
Won Sok Lee, MD, Virginia Commonwealth University, Richmond, VA, USA
Objectives:
- Describe the context of a challenging clinical case.
- Discuss the molecular pathology techniques used in the diagnosis of the case.
- Propose a final diagnosis based upon findings and diagnostic evidence.
Recording Date: November 17, 2020
Continuing Education Credit Information
CME/CMLE credit: 1.00 hr
Last day to purchase course and CE claim credit: February 16, 2024
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