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Molecular Diagnostics

Image: Acute Myeloid Leukemia: The blasts are medium to large in size and have an elevated nuclear: cytoplasmic ratio. The nuclear chromatin is fine and there are prominent nucleoli. Frequent blasts show indented or “cup-shaped” nuclear contours (Photo courtesy of Elizabeth Courville, MD).

Bone Marrow Donors May Transfer Pathogenic Mutations to Patients

 Clonal hematopoiesis of indeterminate potential, or CHIP, is characterized by the presence of mutant hematopoietic stem cell clones in the bone marrow without overt signs of disease. More...
27 Jan 2020
Image: Photomicrograph of Rickettsia conorii in Vero cells (red rods; magnification ×1,000) (Photo courtesy of Wikimedia Commons)

Identification of Rickettsial Biomarker Facilitates Early Diagnosis of Tick-borne Spotted Fevers

 A protein biomarker has been identified that enables the rapid and specific early diagnosis of tick-borne rickettsial diseases such as Rocky Mountain spotted fever and Mediterranean spotted fever. More...
27 Jan 2020
Image: Photomicrograph of a sputum specimen showing the presence of numerous Mycobacterium tuberculosis bacteria (Photo courtesy of [U.S.] Centers for Disease Control and Prevention)

Genetic Biomarkers Detect Incipient Tuberculosis, Predict Progression of the Disease

 A panel of genetic biomarkers in samples of whole blood has been confirmed as a useful biomarker for the detection of incipient tuberculosis (TB). More...
27 Jan 2020
Image: Figure A shows the location of the lungs and airways in the body. Figure B shows a cross-section of a normal airway. Figure C shows a cross-section of an airway during asthma symptoms (Photo courtesy of [U.S.] National Institute of Health: National Heart, Lung, Blood Institute)

Mutation Present in Genome of Some Asthma Patients Is Responsible for Resistance to Glucocorticoid Treatment

 A genetic variant has been identified that causes depressed lung function among asthma patients and reduces their response to glucocorticoid treatment. More...
23 Jan 2020
Image: One year old boy with Cornelia de Lange syndrome (Photo courtesy of the University of Washington).

Neurodevelopmental Disorders Diagnosed with RNA-Sequencing

 Cornelia de Lange syndrome (CdLS) is a genetic disorder and people with this syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. The syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges. More...
23 Jan 2020
Image: Genome-wide association and Mendelian randomization analysis provide insights into the pathogenesis of heart failure (Photo courtesy of WebMD).

Genome-Wide Association Leads to Heart Failure Risk Loci

 Heart failure (HF) affects more than 30 million individuals worldwide and its prevalence is rising. HF-associated morbidity and mortality remain high despite therapeutic advances, with 5-year survival averaging around 50%. More...
23 Jan 2020
Image: Histological immunostaining showing expression of leucine‐rich repeat‐containing G protein–coupled receptor 6 (LGR6) in esophageal squamous cell carcinoma (ESCC) and normal esophageal tissues (NT) (Photo courtesy of Fujian Medical University).

Diagnostic Biomarker Found for Esophageal Squamous Cell Carcinoma

 Esophageal cancer is one of the most common malignant tumors in the world, and its incidence ranks seventh among those of all malignant tumors. Esophageal cancer can be divided into two pathological types: squamous cell carcinoma (SCC) and adenocarcinoma. More...
22 Jan 2020
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