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Molecular Diagnostics

Image: The Envisia Genomic Classifier Kit improves diagnosis for patients undergoing evaluation for interstitial lung diseases (ILDs), including idiopathic pulmonary fibrosis (IPF) (Photo courtesy of Veracyte).

Genomic Classifier Test for Lung Disease Validated

In the appropriate clinical setting, the diagnosis of idiopathic pulmonary fibrosis (IPF) requires a pattern of usual interstitial pneumonia to be present on high-resolution chest computerized tomography (HRCT) scan or surgical lung biopsy. More...
18 Apr 2019
Image: A Target Enrichment Kit (Photo courtesy of Roche Life Sciences).

Rare Coding Mutations Associated with Alzheimer’s Disease

Alzheimer disease (AD) is the most common type of dementia and affects an estimated 5.7 million individuals in the USA, with the number projected to rise to 14 million by 2050. More...
17 Apr 2019
Image: The hand and foot a patient with Opitz C Syndrome (Photo courtesy of Dr. Jorge Avina).

Genetic Diagnosis of Opitz C Syndrome Advanced

Opitz C syndrome (OCS), an ultra-rare disease that causes serious physical and intellectual disabilities, has a heterogeneous genetic base that makes its medical diagnostic and therapeutic intervention difficult. More...
16 Apr 2019
Image: The high-density Human Omni 2.5-8 SNP array (Photo courtesy of Illumina).

Genome-Wide Screening Identifies Pancreatic Cancer Biomarkers

Surgery currently offers the only chance for a cure in pancreatic ductal adenocarcinoma (PDAC), but it carries a significant morbidity and mortality risk and results in varying oncologic outcomes. More...
16 Apr 2019
Image: Researchers identified an RNA signature in the blood of pregnant lupus patients that could help predict the development of preeclampsia (Photo courtesy of Medical Xpress).

Profiling of Blood Transcriptome Predicts Complications in Pregnancies

Researchers have proposed profiling of the blood transcriptome as a method to predict complications in pregnancy that might be experienced by women with systemic lupus erythematosus. More...
15 Apr 2019
Image: Dr. Brian Geiss displays a gold microwire that is one-fourth the size of a human hair (Photo courtesy of John Eisele, Colorado State University Photography).

New Test May Replace ELISA for Detecting Antibodies

A microwire-based test may replace enzyme-linked immunosorbent assay (ELISA) as the primary method to detect antibodies specific for pathogenic microorganisms in patient's sera. More...
15 Apr 2019
Image: New imaging technology based on fluorescent chemical probes enables visualization of what cells eat, which could aid the diagnosis and treatment of diseases such as cancer (Photo courtesy of the University of Edinburgh).

Fluorescent Markers May Aid Cancer Diagnostics by Tracking Metabolites

A novel class of fluorescent markers allows real‐time tracking of essential metabolites in live cells in culture and in vivo in order to trace the acquisition of metabolic profiles from human cancer cells of variable origin. More...
15 Apr 2019
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