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Molecular Diagnostics

Image: Bone marrow biopsy of a patient with multiple myeloma, showing diffuse infiltration by neoplastic plasma cells, which can be recognized by the eccentric nucleus and perinuclear halo (Photo courtesy of Dr. Michael G. Bayerl).

Multiple Myeloma Survival Associated with Enzyme Levels

Multiple myeloma (MM) is the second most common blood cancer in the USA and 30% to 50% of multiple myeloma patients have extra copies of the gene that encodes the enzyme Adenosine Deaminase, RNA Specific (ADAR1). More...
21 Dec 2017
Image: This is a malignant melanoma, the most severe form of skin cancer. Melanomas, which arise from dysplastic nevi tend to be asymmetrical, with poorly defined borders and often with varied coloration (Photo courtesy of Skin Cancer Foundation).

Phenocopies Found in Melanoma-Prone Families

Melanoma, but no other cancers, is more common in the non-carriers in these families compared to the normal population. The phenomenon whereby non-carriers of a specific mutation copy the phenotype (in this case melanoma) from their mutation-carrying relatives is known as phenocopy. More...
19 Dec 2017
Image: The Quantifiler Trio DNA quantification kit (Photo courtesy of Thermo Fisher Scientific).

New Assay Predicts Cancerous Pancreatic Lesions

A new simple molecular test has been developed to detect chromosomal abnormalities, biomarkers known as telomere fusions, in pancreatic tumor specimens and pancreatic cyst fluids. This assay may help predict the presence of high-grade or invasive pancreatic cancers requiring surgical intervention. More...
18 Dec 2017
Image: The NutriPhone is a mobile diagnostics platform for monitoring individual vitamin and micronutrient levels was adapted to work with a rapid point-of-care assay system (Photo courtesy of Cornell University).

Rapid POC Assay Detects Micronutrient Deficiencies

A technology that could transform the way nutritional deficiency testing is done worldwide is based on a novel 15-minute point-of-care assay system that enables determination of vitamin A, iron, and inflammation status. More...
18 Dec 2017
Image: Circulating tumor DNA (ctDNA) is found in serum and plasma fractions from blood. The mechanism of ctDNA release is unknown, though apoptosis, necrosis, and active secretion from tumor cells have been hypothesized (Photo courtesy of Wikimedia Commons).

Detection of Circulating DNA Predicts Poor Prognosis

Analysis of circulating tumor DNA for mutations in the BRAF and NRAS genes was found to accurately predict the likely recurrence of malignant melanoma. More...
18 Dec 2017
Image: The Mastercycler Nexus thermal cycler (Photo courtesy of Eppendorf).

Multiplexed Amplification Evaluated for Viral Hemorrhagic Fever Diagnostics

Viral hemorrhagic fever is a severe and potentially lethal disease, characterized by fever, malaise, vomiting, mucosal and gastrointestinal bleeding, and hypotension, in which multiple organ systems are affected. More...
14 Dec 2017
Image: The ScanScope systems (Photo courtesy of Leica/Aperio).

Five New Genes Identified for ALS

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is characterized by loss of motor neurons in the brain, brainstem and spinal cord, with concurrent muscle atrophy and is typically fatal within 2–5 years from diagnosis. More...
13 Dec 2017
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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.