Please note that this content was created in 2018. In the time since this material was posted, there may have been additional developments, advancements, and/or more current publications in this field.
AMP Education is constantly updating our educational offerings, and will remove or replace content that is no longer accurate. Please be sure to use the search function to find related or updated material available in our catalogue at educate.amp.org. The Training and Education Committee works with AMP Education Programs to bring you the most up-to-date and cutting-edge information on molecular pathology research, applications, and training.
This is a recording of a session from the AMP 2018 Annual Meeting & Expo. Purchase the entire AMP Annual Meeting & Expo 2018 Recordings for a significant discount!
Challenging Case Studies in genetics and informatics 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.
Occurrence of Medulloblastoma in a Patient with Curry-Jones Syndrome
Binu Porath, PhD, Children's Mercy Hospital, Kansas City, MO, USA
Identification of a Novel Likely Pathogenic PIK3R1 Variant by Targeted Next-Generation Sequencing Analysis in a Patient with Overgrowth Syndrome and Lymphatic Malformation
Christopher Suciu, MD, MS Washington University School of Medicine in St. Louis, St. Louis, MO, USA
Sex Check: Verifying Patient Sex Based on Off-Panel SNPs on the X Chromosome
Jennifer Bynum, MD, Johns Hopkins, Baltimore, MD, USA
A Discrepancy Between the Human Reference Genome (GRCh37) and Transcriptome (RefSeq) Results in the Incorrect Annotation of a Clinically-Relevant Sequence Variant in RECQL4
Lisa Lansdon, PhD, Children's Mercy Kansas City, Kansas City, MO, 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.
Duration: 1.00 hr
Recording Date: November 1, 2018
Last day to purchase: December
31, 2021
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