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Molecular Diagnostics

Image: The NovaSeq 6000 system offers high-throughput sequencing across a broad range of applications (Photo courtesy of Illumina).

Machine-Learning System Used to Diagnose Genetic Diseases

By informing timely targeted treatments, rapid whole-genome sequencing can improve the outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and pediatric intensive care units (ICUs). More...
07 May 2019
Image: The QuickGene-610L nucleic acid isolation system (Photo courtesy of Autogen).

New Genetic Test Detects Mutations in High-Risk Groups

A new low-cost genetic test has been developed that accurately identified more than 200 known disease-causing gene variations in two high-risk populations, the Old Order Amish and Old Order Mennonites of Lancaster County, Pennsylvania. More...
07 May 2019
Image: The MinION is the only portable real-time device for DNA and RNA sequencing (Photo courtesy of Oxford Nanopore).

Sequencing Shows Promise for Diagnosing Prosthetic Joint Infections

A method is being developed for diagnosing infections associated with prosthetic joint implants that promises to provide results in a matter of hours as opposed to a week or more. More...
07 May 2019
Image: Neurofilaments (red) in cultured rat brain cells (Photo courtesy of Wikimedia Commons).

Neurofilament Light Considered as NIV Biomarker for Alzheimer's Disease

Results presented in a recently published paper suggested that plasma neurofilament light protein may serve as a noninvasive biomarker to monitor neurodegeneration in Alzheimer disease (AD). More...
06 May 2019
Image: A visualization of morulae in the cytoplasm of a granulocyte during examination of blood smears is highly suggestive of a diagnosis of Human Granulocytic Anaplasmosis (Photo courtesy of the US Centers for Disease Control and Prevention).

Diagnostic Methods Compared for Human Granulocytic Anaplasmosis

Human granulocytic anaplasmosis (HGA) is a tick-borne intracellular bacterial infection caused by Anaplasma phagocytophilum. The disease is present in North America, Europe, and northern Asia, areas with Ixodes ricinus ticks, the primary vector for transmission to humans. More...
02 May 2019
Image: The blood test by Natera detects breast cancer relapses (Photo courtesy of the University of Leicester).

Personalized Detection of ctDNA Antedates Breast Cancer

Breast cancer is one of the most commonly diagnosed cancers worldwide and the second leading cause of cancer-related deaths in women. The current standard of care for women with primary (non-metastatic) breast cancer is surgery, often followed with adjuvant therapy to eliminate microscopic minimal residual disease (MRD). More...
01 May 2019
Image: The ABI 7900HT Fast Real-Time PCR System (Photo courtesy of Thermo Fisher Scientific).

Novel Genes and Pathways Discovered in Celiac Disease

Celiac disease (CD) is a chronic systemic autoimmune disease that occurs globally in genetically predisposed individuals in response to ingestion of gluten-containing grains. While the pathognomonic damage occurs in the small intestine, clinical manifestations are varied and include both intestinal and extra-intestinal symptoms. More...
01 May 2019
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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.