Categoría: The Journal of Molecular Diagnostics
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The Critical Role of Preanalytical Factors in Validating Cytology Specimens for Hybrid-Capture Next-Generation Sequencing: From Smear to Sequence
Cytologic specimens, often the only available sample, are increasingly relied upon for comprehensive genomic profiling in patients with advanced malignancies, necessitating detailed characterization of next-generation sequencing (NGS) assay performance…
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Simultaneous detection of SMN1, SMN2, NAIP, H4F5, GTF2H2 copy number and SMN1 loss-of-function variants for SMA by MALDI-TOF mass spectrometry
Spinal muscular atrophy (SMA) is a common fatal genetic disorder with high carrier rate. For prevention program and treatment plan of this disease, a comprehensive assay is practically needed to gain multi-genetic information, enabling effective molecu…
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Validation of a Semiquantitative Real-Time PCR Assay for Malaria Diagnosis and Treatment Monitoring
Microscopic examination of blood smears is the current gold standard for laboratory confirmation of malaria. However, it is time-consuming and lacks sensitivity while requiring highly skilled laboratory professionals. This study validated a multiplex r…
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Validation of a Semi-Quantitative Real-Time PCR Assay for Malaria Diagnosis and Treatment Monitoring
Microscopic examination of blood smears is the current gold standard for laboratory confirmation of malaria. However, it is time consuming and lacks sensitivity while requiring highly skilled laboratory professionals. We validated a multiplex real-time…
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Next-Generation Sequencing Reporting Practices among the Genomics Organization for Academic Laboratories Institutions
Tumor next-generation sequencing (NGS) is widely used to refine diagnosis and identify therapy targets. However, reporting criteria, schemas, and formats vary greatly, which can affect uniformity of clinical cancer care. With the aim of promoting harmo…
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Next-generation sequencing reporting practices among the Genomics Organization for Academic Laboratories (GOAL) institutions: Current state and opportunities for harmonization
Tumor next-generation sequencing (NGS) is widely used to refine diagnosis and identify therapy targets. However, reporting criteria, schemas, and formats vary greatly which can affect uniformity of clinical cancer care. With the aim of promoting harmon…
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Performance Evaluation of a Custom Myeloid Assay on the Genexus Integrated Sequencer from a Wide Spectrum of Clinical Variants
A custom Genexus myeloid assay (CMA) underwent a technical evaluation for detection of variants from both DNA and RNA in a single assay format. The custom assay was initially verified with commercial DNA and RNA controls containing known myeloid varian…
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Performance Evaluation of a Custom Myeloid Assay on the Genexus Integrated Sequencer from a Wide Spectrum of Clinical Variants
A custom Genexus myeloid assay (CMA) underwent a technical evaluation for detection of variants from both DNA and RNA in a single assay format. The custom assay was initially verified with commercial DNA and RNA controls containing known myeloid varian…
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Epigenetic CD4+ T-Cell Quantification from Dried Blood Spots Using a Real-Time Quantitative PCR–Based Assay
Despite the clinical importance of CD4 testing for identifying advanced HIV disease, access to conventional flow cytometry remains limited in many settings. Epigenetic real-time quantitative PCR (qPCR)-based immune cell quantification represents a mole…
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Segmental Copy Number Variant Detection Using an Amplicon-Based Next-Generation Sequencing Panel for Integrated Glioma Classification
Next-generation sequencing is a first-tier test in molecular oncology, capable of detecting sequence variants and copy number variants (CNVs). Although most amplicon-based gene panels are not designed to detect segmental chromosomal CNVs, they can stil…