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Molecular Diagnostics

Image: FoundationOne Heme next-generation sequencing test can be used to assess routine cancer specimens for all genes that are currently known to be somatically altered and unambiguous drivers of oncogenesis in hematologic malignancies and sarcomas (Photo courtesy of Foundation Medicine)

Germline Genetic Testing Assesses Inherited Risk for Myeloid Malignancies

 Inherited risk for hematologic malignancies was historically thought to be relatively rare; however, the increased use of next-generation sequencing has identified more patients with germline genetic mutations that are known to increase cancer risk. More...
26 Dec 2019
Image: The test tube on the left shows a real positive result from water sampled in Costa Rica. The middle tube is a negative control. The tube on the right is a positive control (Photo courtesy of Dr. Julius B. Lucks, Northwestern University)

Novel Biotech-Based Field or Lab Assay for Detection of Fluoride

 A simple, yet sophisticated biotech-based assay for the detection of fluoride levels was successfully tested in the laboratory and in the field. More...
26 Dec 2019
Image: Acoustofluidic exosome isolation chip for salivary exosome isolation. The microfluidic channel is shown by red dye solution and the coin demonstrates the size of the chip. Two pairs of gold interdigital transducers are deposited along the channel, which separates particles according to size (Photo courtesy of The Journal of Molecular Diagnostics)

A Rapid Method for Isolating Viral DNA-enriched Salivary Exosomes for Diagnosis and Monitoring of Oropharyngeal Cancer

 A novel method, based on the combination of microfluidics and acoustics, for concentrating exosomes containing viral DNA from the saliva of oropharyngeal cancer patients was found to be 15 times more sensitive than the current gold standard differential centrifugation method. More...
24 Dec 2019
Image: Innate immune cells: heterozygous mutations of the RIPK1 caspase-8 cleavage site cause the autoinflammatory disease CRIA syndrome (Photo courtesy of Walter and Eliza Hall Institute)

New Human Autoinflammatory Disease Identified

 Autoinflammatory diseases are caused by abnormal activation of the innate immune system, leading to recurrent episodes of fever and inflammation that can damage vital organs. More...
24 Dec 2019
Image: Bone marrow film from a patient with myelodysplastic syndrome demonstrates small hypolobated megakaryocytes that are typical of the syndrome with isolated del(5q) (Photo courtesy of John P. Hunt, MD)

Distinct Myelodysplastic Syndrome Subtypes Identified by Genomic, Transcriptomic Analysis

 Myelodysplastic syndrome is a premalignant disease that affects myeloid cell. It is a precursor to acute myeloid leukemia, an aggressive blood cancer caused by the accumulation of immature blood cells. More...
23 Dec 2019
Image: Artistic rendering of the surface of a human dendritic cell illustrating sheet-like processes that fold back onto the membrane surface (Photo courtesy of Wikimedia Commons)

Combining RNA Sequencing with a Learning Algorithm to Identify Single Cells in Biopsy Specimens

 A generalized method for classifying single cells based on their transcriptional dataset was published in a recent paper. More...
23 Dec 2019
Image: In healthy people, the CFTR protein is embedded in the membrane of most cells, where it forms a channel for chlorine ions. In people with cystic fibrosis, an inherited mutation in the CFTR gene means their channels do not work as well and cells produce more mucus. The RNF5 protein inhibits CFTR, so people with cystic fibrosis who have genetic variations that decrease RNF5 expression have CFTR channels that function a little better, and thus are not as prone to infections as people with high RNF5 expression (Photo courtesy of University of California, San Diego)

Genome Wide Sequencing Study Reveals Why Some Cystic Fibrosis Patients Develop Fewer Lung Infections

 Results published in a recent paper provided an explanation at the molecular level as to why some cystic fibrosis patients have a reduced tendency to contract chronic lung infections. More...
23 Dec 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.