Editorial Board
(Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - January 22, 2024 Category: Pathology Source Type: research
Table of Contents
(Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - January 22, 2024 Category: Pathology Source Type: research
Detection of Constitutional Structural Variants by Optical Genome Mapping
Optical genome mapping is a high-resolution technology that can detect all types of structural variations in the genome. This second phase of a multisite study compares the performance of optical genome mapping and current standard-of-care methods for diagnostic testing of individuals with constitutional disorders, including neurodevelopmental impairments and congenital anomalies. Among the 627 analyses in phase 2, 405 were of retrospective samples supplied by five diagnostic centers in the United States and 94 were prospective samples collected over 18 months by two diagnostic centers (June 2021 to October 2022). (Source:...
Source: Journal of Molecular Diagnostics - January 9, 2024 Category: Pathology Authors: Ulrich Broeckel, M. Anwar Iqbal, Brynn Levy, Nikhil Sahajpal, Peter L. Nagy, Gunter Scharer, Vanessa Rodriguez, Aaron Bossler, Aaron Stence, Cindy Skinner, Steven A. Skinner, Ravindra Kolhe, Roger Stevenson Tags: Regular article Source Type: research
Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples
Optical genome mapping is a high resolution technology that can detect all types of structural variations in the genome. This second phase of a multisite study compares the performance of optical genome mapping and current standard of care methods for diagnostic testing of individuals with constitutional disorders including neurodevelopmental impairments and congenital anomalies.Among the 627 analyses in phase 2, 405 were of retrospective samples supplied by five diagnostic centers in the United States and 94 were prospective samples collected over 18 months by two diagnostic centers (June 2021 – October 2022). (Source: ...
Source: Journal of Molecular Diagnostics - January 9, 2024 Category: Pathology Authors: Ulrich Broeckel, M. Anwar Iqbal, Brynn Levy, Nikhil Sahajpal, Peter L. Nagy, Gunter Scharer, Vanessa Rodriguez, Aaron Bossler, Aaron Stence, Cindy Skinner, Steven A. Skinner, Ravindra Kolhe, Roger Stevenson Tags: Regular Article Source Type: research
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk
Prenatal molecular genetic testing for familial variants that cause inherited disorders has been performed for decades and is accepted as standard of care. However, the spectrum of genes considered for prenatal testing is expanding because of genetic testing for hereditary cancer risk (HCR) and inclusion of conditions with associated cancer risk in carrier screening panels. A few of these disorders, such as ataxia telangiectasia and Bloom syndrome, include increased cancer risk as part of the phenotype, already meet professional guidelines for prenatal testing, and may be associated with increased cancer risk in heterozygo...
Source: Journal of Molecular Diagnostics - December 31, 2023 Category: Pathology Authors: Lynne S. Rosenblum, Stephanie M. Auger, Hui Zhu, Zhaoqing Zhou, Winnie Xin, Jennifer Reiner, Zena Wolf, Natalia T. Leach Tags: Regular article Source Type: research
Prenatal testing for variants in genes associated with hereditary cancer risk: laboratory experience and considerations
Prenatal molecular genetic testing for familial variants that cause inherited disorders has been performed for decades and is accepted as standard of care. However, the spectrum of genes considered for prenatal testing is expanding due to genetic testing for hereditary cancer risk (HCR) and inclusion of conditions with associated cancer risk in carrier screening panels. A few of these disorders, such as ataxia telangiectasia and Bloom syndrome, include increased cancer risk as part of the phenotype, already meet professional guidelines for prenatal testing, and may be associated with increased cancer risk in heterozygous c...
Source: Journal of Molecular Diagnostics - December 31, 2023 Category: Pathology Authors: Lynne S. Rosenblum, Stephanie M. Auger, Hui Zhu, Zhaoqing Zhou, Winnie Xin, Jennifer Reiner, Zena Wolf, Natalia T. Leach Tags: Regular Article Source Type: research
Correction
The authors of the article entitled, “Identification and Validation of Noncanonical RET Fusions in Non–Small-Cell Lung Cancer through DNA and RNA Sequencing” (Volume 24, pages 374–385 of the April 2022 issue of The Journal of Molecular Diagnostics; DOI: https://doi.org/10.1016/j.jmoldx.2021.12.004) have requested a correction t o update the funding statement for this article as the number for the National Natural Science Foundation of China is incorrect. The correct number should be: 82003154. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - December 20, 2023 Category: Pathology Tags: Correction Source Type: research
Editorial Board
(Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - December 19, 2023 Category: Pathology Source Type: research
Table of Contents
(Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - December 19, 2023 Category: Pathology Source Type: research
Instructions to Authors
(Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - December 19, 2023 Category: Pathology Source Type: research
Scientific Integrity Policy
(Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - December 19, 2023 Category: Pathology Source Type: research
Slice Testing —Considerations from Ordering to Reporting
As the number of genes associated with various germline disorders continues to grow, it is becoming more difficult for clinical laboratories to maintain separate assays for interrogating disease-focused gene panels. One solution to this challenge is termed slice testing, where capture backbone is used to analyze data specific to a set of genes, and for this article, we will focus on exome. A key advantage to this strategy is greater flexibility by adding genes as they become associated with disease or the ability to accommodate specific provider requests. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - December 14, 2023 Category: Pathology Authors: Jeffrey A. SoRelle, Birgit H. Funke, Celeste C. Eno, Jianling Ji, Avni Santani, Pinar Bayrak-Toydemir, Megan Wachsmann, Karen E. Wain, Rong Mao Tags: Special article Source Type: research
Comparing the Diagnostic Performance of Quantitative PCR, Digital Droplet PCR, and Next-Generation Sequencing Liquid Biopsies for Human Papillomavirus –Associated Cancers
Human papillomavirus (HPV)-associated cancers, including oropharyngeal squamous cell carcinoma (HPV + OPSCC), cervical cancer, and squamous cell carcinoma of the anus (HPV + SCCA), release circulating tumor HPV DNA (ctHPVDNA) into the blood. The diagnostic performance of ctHPVDNA detection depends on the approaches used and the individual assay metrics. A comparison of these approaches has no t been systematically performed to inform expected performance, which in turn affects clinical interpretation. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - December 14, 2023 Category: Pathology Authors: Saskia Naegele, Daniel A. Ruiz-Torres, Yan Zhao, Deborah Goss, Daniel L. Faden Tags: Regular article Source Type: research
Quantification of Measurable Residual Disease Detection by Next-Generation Sequencing –Based Clonality Testing in B-Cell and Plasma Cell Neoplasms
Next-generation sequencing (NGS)-based measurable residual disease (MRD) monitoring in post-treatment settings can be crucial for relapse risk stratification in patients with B-cell and plasma cell neoplasms. Prior studies have focused on validation of various technical aspects of the MRD assays, but more studies are warranted to establish the performance characteristics and enable standardization and broad utilization in routine clinical practice. Here, the authors describe an NGS-based IGH MRD quantification assay, incorporating a spike-in calibrator for monitoring B-cell and plasma cell neoplasms based on their unique I...
Source: Journal of Molecular Diagnostics - December 14, 2023 Category: Pathology Authors: Ying Liu, Caleb Ho, Wayne Yu, Ying Huang, Jeffrey Miller, Qi Gao, Mustafa Syed, Yuanyuan Ma, Meiyi Wang, Lidia Maciag, Kseniya Petrova-Drus, Menglei Zhu, JinJuan Yao, Chad Vanderbilt, Benjamin Durham, Jamal Benhamida, Mark D. Ewalt, Ahmet Dogan, Mikhail R Tags: Regular article Source Type: research
Comparing the Diagnostic Performance of qPCR, ddPCR, and NGS Liquid Biopsies for HPV-Associated Cancers
HPV-associated cancers, including oropharyngeal squamous cell carcinoma(HPV+OPSCC), cervical cancer(HPV+CC), and squamous cell carcinoma of the anus(HPV+SCCA), release circulating tumor HPV DNA(ctHPVDNA) into the blood. The diagnostic performance of ctHPVDNA detection depends on the approaches utilized and the individual assay metrics. A comparison of these approaches has not been systematically performed to inform expected performance, which in turn impacts clinical interpretation. A meta-analysis was performed using Ovid MEDLINE, Embase, and Web of Science Core Collection databases to assess the diagnostic accuracy of ct...
Source: Journal of Molecular Diagnostics - December 14, 2023 Category: Pathology Authors: Saskia Naegele, Daniel A. Ruiz-Torres, Yan Zhao, Deborah Goss, Daniel L. Faden Tags: Regular Article Source Type: research
