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Molecular Diagnostics

Image: The Karius Test, which uses microbial cell-free DNA (mcfDNA-seq), can predict bloodstream infections in leukemia patients up to three days before the onset of symptoms (Photo courtesy of Karius)

Blood-Based Sequencing Identifies Pediatric Cancer Infections Before Symptoms

 Infections are common, yet life-threatening complications that affect immuno-compromised cancer patients and bloodstream infection (BSI) is a common, life-threatening complication of treatment for cancer. More...
09 Jan 2020
Image: Micrograph of a diffuse large B cell lymphoma, from a bone marrow aspirate; the nucleus may be convoluted and irregular (Photo courtesy of Peter Maslak)

Molecular Profiles, Microenvironment Signatures May Improve Lymphoma Prognosis

 The tumor microenvironment includes surrounding blood vessels, immune cells, fibroblasts, signaling molecules, and the extracellular matrix that encapsulate the cancerous cells. The non-lymphoma cells lingering in the tumor's microenvironment, for example, can modify the effect of the mutations. More...
09 Jan 2020
Image: 22q11.2 deletion syndrome is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2 (Photo courtesy of U.S. National Library of Medicine)

Common Variant Modifiers for Syndromic Heart Condition Located

 DiGeorge syndrome, also known as 22q11. 2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate. More...
09 Jan 2020
Image: The Agilent Technologies 2100 Bioanalyzer system is an established automated electrophoresis tool for the sample quality control of biomolecules (Photo courtesy of Laboratory Controls LLC)

Urinary Cell-Free DNA Detects Urothelial Carcinoma

 Most bladder cancers start in the innermost lining of the bladder, which is called the urothelium or transitional epithelium. As the cancer grows into or through the other layers in the bladder wall, it has a higher stage, becomes more advanced, and can be harder to treat. More...
08 Jan 2020
Image: Cartoon representation of the zinc-finger motif of proteins. The zinc ion (green) is coordinated by two histidine and two cysteine amino acid residues (Photo courtesy of Wikimedia Commons)

An Omics Approach for Predicting Mutations in Protein-Metal Binding Sites

 A deep learning approach was developed that was able to predict how mutations in the metal-binding sites of metalloproteins were related to various diseases. More...
06 Jan 2020
Image: Flongle is an adapter (flow cell dongle) for the MinION or GridION that enables direct, real-time DNA or RNA sequencing on smaller, single-use flow cells (Photo courtesy of Oxford Nanopore Technologies).

Nanopore Sequencing Rapidly Diagnoses Gut Condition in Preterm Infants

 The culture-independent, sensitive, data-rich nature of metagenomic sequencing, combined with powerful bioinformatics tools, have allowed scientists to differentiate patient groups from healthy individuals based on their microbial profiles. More...
03 Jan 2020
Image: Scanning electron micrograph of inside the nucleus of a cancer cell, chromosomes are indicated by blue arrows and circular extrachromosomal DNA are indicated by orange arrows (Photo courtesy of Paul S. Mischel, MD, UC San Diego)

Extrachromosomal Circular DNA Drives Oncogenic Genome Remodeling in Neuroblastoma

 Circularized DNA falling outside of linear chromosomes may serve as a recurrent source of somatic rearrangements in neuroblastoma, a pediatric cancer affecting immature cells in the sympathetic nervous system. More...
02 Jan 2020
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Genetic Testing channel of LabMedica brings the latest in molecular genetics, cytogenetics, and epigenetics, and methods from PCR to FISH, and more.
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