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Molecular Diagnostics

Image: Primary angle closure glaucoma can cause permanent blindness if not treated quickly. A highly sensitive genetic test has been developed (Photo courtesy of Flinders University)

Highly Sensitive Genetic Test for Glaucoma Developed

In open-angle glaucoma, the angle in the eye where the iris meets the cornea is as wide and open as it should be, but the eye’s drainage canals become clogged over time, causing an increase in internal eye pressure and subsequent damage to the optic nerve. More...
28 Jul 2021
Image: Neuropathologic analysis of brain tissue from FTLD patients. Ubiquitin immunohistochemistry in cases of familial FTLD demonstrates staining of (a) neurites and neuronal cytoplasmic inclusions in the superficial cerebral neocortex, (b) neuronal cytoplasmic inclusions in hippocampal dentate granule cells, and (c) neuronal intranuclear inclusions in the cerebral neocortex (arrows) (Photo courtesy of Wikimedia Commons)

Neurofilament Light Chain Levels Increase Accuracy of Neurodegenerative Disease Detection

Increased accuracy in early detection of neurodegenerative diseases was obtained by adding determination of levels of neurofilament light chain (NfL) protein in cerebrospinal fluid (CSF) to the framework that combines three Alzheimer's disease biomarkers - pathologic amyloid plaques (A), tangles (T), and neurodegeneration (N), collectively called ATN. More...
27 Jul 2021
Image: Schematic structure of the thrombomodulin protein (Photo courtesy of Wikimedia Commons)

Thombomodulin Identified as Unique Biomarker for Diagnosing Necrotizing Soft-Tissue Infections

Thrombomodulin, a protein present in blood plasma, is a biomarker that may be useful for diagnosing necrotizing soft-tissue infections. More...
26 Jul 2021
Image: The Lumipulse G β-amyloid 1-40 assay kit (Photo courtesy Fujirebio)

APOE Gene Influences Alzheimer's Symptoms, Biomarkers in Down Syndrome

Individuals with Down syndrome (DS) constitute a population at ultrahigh risk of developing Alzheimer disease (AD) because of trisomy of chromosome 21, which harbors the amyloid precursor protein (APP) gene. More...
22 Jul 2021
Image: Axiom Genome-Wide Population-Optimized Human Arrays are genotyping panels that offer the best genetic coverage of rare and common variants for genome-wide disease association studies (Photo courtesy of Thermo Fisher Scientific)

Preemies' Blood Type Tied to Risk for Necrotizing Enterocolitis

Necrotizing enterocolitis (NEC) and focal intestinal perforation (FIP) are two of the most common emergencies of the gastrointestinal tract in preterm infants with very low birth weight (VLBW). The etiology and pathogenesis of NEC and FIP remain poorly understood. More...
21 Jul 2021
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
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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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