Molecular Diagnostics

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

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

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

$Image: A diagram of the human prostate gland, roughly the size and shape of a walnut, bisected by the urethra. The locations of each of an individual\'s 13 biopsy cores are indicated. Information obtained via single-cell sequencing from cells sampled from each core indicates the likely location of a cancerous tumor (dotted lines encompassing cores 2, 3 and 6) (Photo courtesy of Cold Spring Harbor Laboratory).$