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Molecular Diagnostics

Image: An evaluation of RP expression specificity across human tissues, primary cells, and tumors (Photo courtesy of University of Basel\'s Biozentrum).

Ribosomal Protein Expression Specifies Normal and Malignant Human Cells

Proteins are the building blocks of life, produced by molecular machines called ribosomes. A human ribosome is composed of four ribosomal RNAs (rRNAs) and 80 ribosomal proteins (RPs), and its structure is believed to be largely invariant. More...
29 Dec 2016
Image: The miRNeasy serum-plasma kit is designed for purification of cell-free total RNA (Photo courtesy of Qiagen).

Serum MiR-122 Levels Associated with Histopathological Features of NAFLD

Non-alcoholic steatohepatitis (NASH) can only be diagnosed by the presence of histopathological components, such as steatosis, lobular inflammation, ballooning, and fibrosis and therefore there is a need for non-invasive surrogate markers of histopathological features. More...
28 Dec 2016
Image: Flowchart of evaluation protocol portraying how a cancer driver gene prediction method of interest can be evaluated. The input to the method is a provided pancan somatic mutation set. The initial output from the method to be evaluated is a list of predicted driver genes with associated P values and q values. A list of significant driver genes is produced by selecting a q value threshold. Additional details can be found in the paper (Photo courtesy of the journal Proceedings of the National Academy of Sciences).

Bioinformatics Tool for Evaluating the Evaluation of Cancer Genes

Researchers offer a new software tool being developed to help assess computational algorithms used in methods to identify mutant genes that drive cancer. The tool could thereby lead to more precise diagnostics and targeted treatments for patients. More...
28 Dec 2016
Image: Radiological response of a Gastrointestinal Stromal Tumor (GIST) possessing an ETV6–NTRK3 fusion following treatment with LOXO-101, a selective TRK inhibitor. A 55-year old male with a T3N0M1 small intestine GIST had progression of disease on five lines of tyrosine kinase inhibitors targeting KIT prior to identification of an ETV6–NTRK3 fusion in the tumor. He was enrolled on a Phase I clinical trial of oral LOXO-101 (Loxo Oncology, Stamford, CT, USA), a selective TRK inhibitor. As compared to baseline PET/CT images (a), the tumors had decreased size and FDG-uptake at week 8 (b). At 4 months, the patient had ongoing partial response (44%) according to RECIST 1.1 criteria (Photo courtesy of the Journal of Translational Medicine).

New Genetic Mutations Linked to Subset of Gastrointestinal Stromal Tumors

Researchers have identified new gene fusions and mutations associated with a subset of Gastrointestinal Stromal Tumors (GIST) patients who lack the documented tell-tale mutations, making diagnosis and treatment more difficult in these cases. More...
27 Dec 2016
Image: The CFX96 real-time PCR detection system (Photo courtesy of Bio-Rad).

Circulating Cell-Free DNA Predicts Gastric Cancer Patients Prognosis

Gastric cancer is the second most common cancer and the fourth leading cause of cancer death and the most significant prognostic indicator is TNM Classification of Malignant Tumors (TNM) staging. More...
21 Dec 2016
Image: A photomicrograph of Onchocerca volvulus microfilarial larva from a skin snip biopsy stained with Giemsa (Photo courtesy of Dr. Lee Moore).

Isothermal DNA Amplification Method Detects Onchocerca in Skin Biopsies

Onchocerciasis, infection with the filarial nematode Onchocerca volvulus is a neglected tropical disease, which is best known as river blindness. Diagnostic procedures for the diagnosis of infection with this nematode parasite are currently based on the microscopic detection of microfilariae in skin biopsies. More...
20 Dec 2016
Image: Fibromuscular dysplasia (FMD) of renal arteries. Image shows \"string-of-beads\" arterial lesions, a feature of multi-focal FMD caused by areas of relative stenoses alternating with small aneurysms. The diameters of the aneurysms exceed the normal diameter of the artery, a sign characteristic of medial FMD. A similar bead appearance may be seen in perimedial FMD, but the diameters of the beads do not exceed the normal diameter of the artery. Note the involvement of branch renal arteries (Photo courtesy of the Journal of Rare Diseases).

Mutations in Gene Show Predisposition to Artery-Damaging Disease

Scientists have discovered that loss-of-function alterations in the YY1AP1 gene can lead to fibromuscular dysplasia (FMD) or similar arterial diseases, including Grange syndrome. The link helps explain what causes this class of arterial disease, which often strikes without warning, as there is currently no test to assess risk of developing FMD. More...
20 Dec 2016
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