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Molecular Diagnostics

Image: The Bionano Genomics Saphyr instrument used for Optical Genome Mapping (Photo courtesy of Bionano Genomics)

Optical Genome Mapping Enables Constitutional Chromosomal Aberration Detection

Optical genome mapping (OGM) is a novel method that fills this void by being able to detect all classes of structural variations (SVs), including copy number variations (CNVs). OGM is being adopted by laboratories as a tool for both postnatal constitutional genetic disorders and hematological malignancies. More...
20 Jul 2021
Image: Artist’s rendition of the SARS-CoV-2 virus, which causes COVID-19 (Photo courtesy of Pixabay)

Serum Biomarkers Enable Tracing the Progress of COVID-19 Infections

A team of Spanish investigators has shown that levels of angiotensin-converting enzyme 2 and various truncated versions of this protein in the blood could be used as biomarkers for following the progress of COVID-19 infection in hospitalized patients. More...
20 Jul 2021
Image: GeneXpert System Xpert-CARBA test for the detection and differentiation of KPC, NDM, VIM, IMP-1, and OXA-48 in 48 minutes (Photo courtesy of Cepheid)

Rectal Colonization by Klebsiella Leads to Different Risks for Bacteremia

Carbapenem-resistant Enterobacterales (CRE) represent a threat for public health, being among the top multidrug-resistant pathogens. Intestinal colonization by CRE is a risk factor for developing subsequent infection. More...
20 Jul 2021
Image: Telomerase reverse transcriptase (TERT) expression in non-lentiginous acral melanoma (NLAM) and non-acral cutaneous melanoma (NACM): (A) exhibiting 1+ TERT staining intensity and (B) The intensity of TERT expression and proportion of TERT-positive cells could also vary in cutaneous melanomas (Photo courtesy of MD Anderson Cancer Center)

Telomerase Reverse Transcriptase Protein Expression Evaluated for Melanomas

Telomeres are regions of repetitive nucleotide sequences located at the ends of chromosomes that play a key role in the maintenance of genomic integrity and stability in cells. In normal nonneoplastic somatic cells, telomeres progressively shorten with successive cell divisions. More...
19 Jul 2021
Image: General schema showing the relationships of the genome, transcriptome, proteome, and metabolome (the domain of clinical metabolomics) (Photo courtesy of Wikimedia Commons)

Metabolomic Analytical Approach Identifies Multiple Neonatal Errors of Metabolism Disorders

A recent paper demonstrated that an untargeted metabolomics analytical approach could identify many more neonatal disorders caused by inborn errors of metabolism (IEM) than could be found by traditional methods. More...
19 Jul 2021
Image: Bone marrow aspirate from a patient with diffuse large B-cell lymphoma (Photo courtesy of Dr. Peter G. Maslak, MD)

Targeted Locus Amplification Validated for Lymphoma

Structural variation (SV) in the genome is a recurring hallmark of cancer. Translocations (genomic rearrangements between chromosomes) in particular are found as recurrent drivers in many types of hematolymphoid malignancies. More...
15 Jul 2021
Image: The Super Sensitive 1-STEP Polymer HRP IHC detection kit (Photo courtesy of BioGenix)

Protein Biomarker Helps Diagnose Pancreatic Cancer

Pancreatic ductal adenocarcinoma (PDAC), characterized by dense desmoplastic stroma laid down by pancreatic stellate cells (PSC), has no reliable diagnostic biomarkers for timely detection. More...
14 Jul 2021
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