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Molecular Diagnostics

Image: Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease investigated (Photo courtesy of Illumina)

Whole-Genome Sequencing Applied to Acutely Ill Infants

Critically ill infants admitted to an intensive care unit are at risk for high levels of morbidity and mortality. In the USA, approximately 400,000 newborns are admitted to a neonatal ICU annually, costing at least USD 26 billion and accounting for up to 50% of the total national pediatric health care expenditure. More...
12 Oct 2021
Image: Micrograph showing a lymph node invaded by ductal breast carcinoma, with an extension of the tumor beyond the lymph node (Photo courtesy of Wikimedia Commons)

High Cell-Free DNA Integrity Is a Biomarker for Poor Breast Cancer Survival

A team of Finnish researchers has refined a liquid biopsy analysis technique to act as a more specific biomarker in order to more accurately predict poor prognosis for patients with aggressive breast cancer. More...
12 Oct 2021
Image: Pictured is a cross section of a peripheral artery from the leg of a patient with chronic limb-threatening ischemia (CLTI), a condition in which heavy plaque formation causes a severe narrowing of the arteries (Photo courtesy of Zayed Research Laboratory, Washington University School of Medicine)

Elevated Circulating Fatty Acid Synthase Is a Diagnostic Biomarker for Peripheral Artery Disease

Elevated levels of a soluble form of the enzyme fatty acid synthase (sFSA) in the blood have been linked to development of the severe vascular disorder peripheral artery disease (PAD). More...
11 Oct 2021
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Meridian Launches New Air-Dryable qPCR Mix Enabling Direct Detection of RNA from Whole Blood Samples

Meridian Bioscience, Inc. (Cincinnati, OH, USA) has launched its new Air-Dryable Direct RNA/DNA qPCR Blood Mix, an innovative master mix designed to develop room-temperature stable molecular diagnostic assays that directly amplify RNA from crude whole blood, serum, or plasma. More...
08 Oct 2021
Image: The SureSelect Target Enrichment System is a highly efficient hybrid selection technique for optimizing next-generation sequencing (Photo courtesy of Agilent Technologies)

ALPK3 Truncating Variants Cause Autosomal Dominant Hypertrophic Cardiomyopathy

In hypertrophic cardiomyopathy, heart muscles are thicker, which can make it harder for the heart to receive and pump blood. While in most cases the condition will not affect daily life, it can cause heart failure and is frequently cited as the most common cause of sudden unexpected death in young people. More...
07 Oct 2021
Image: The QIAcube is an automated system which can extract DNA or RNA from up to 12 samples simultaneously (Photo courtesy of Qiagen)

PCR Assay Detects and Differentiates Coccidioides Species

Coccidioidomycosis (Valley Fever) is a pulmonary and systemic fungal disease with increasing incidence and expanding endemic areas. The differentiation of etiologic agents Coccidioides immitis and C. posadasii remains problematic in the clinical laboratories as conventional PCR and satellite typing schemes are difficult. More...
07 Oct 2021
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Next-Generation Multiomics Blood-Based Test for Pancreatic Cancer Could Become Powerful Tool for Early Diagnosis and Treatment

Freenome Holdings, Inc. (South San Francisco, CA, USA) has demonstrated the potential of extending its multiomics approach into other cancers, such as pancreatic cancer, with biomarkers already embedded in the existing platform. More...
07 Oct 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.