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Molecular Diagnostics

Image: A Denovix DS-11 spectrophotometer (Photo courtesy of Denovix).

Simple Sensitive Assays Used for Analyzing Fragile X Syndrome

Fragile X syndrome, the most common heritable cause of intellectual disability and a frequent cause of autism, is characterized by abnormalities of the fragile X mental retardation 1gene (FMR1) that are difficult to analyze. More...
25 Aug 2016
Image: The QX100 Droplet digital PCR reader (Photo courtesy of Bio-Rad).

Droplet Digital PCR Rapidly Detects Alpha-Thalassemia Variants

Alpha (α)-thalassemia is a highly prevalent genetic disease worldwide and it is characterized by various degrees of alpha globin chain deficit caused by either deletional or non-deletional mutations although the former are more common. More...
24 Aug 2016
Image: Different colored dots represent the status of micro RNA in the blood. Researchers looked for similarities among blood samples from Parkinson\'s patients (Photo courtesy of Van Andel Research Institute).

Parkinson's Disease Risk Indicators Found in Diverse Tissues

Tiny changes in DNA that have been linked to Parkinson's disease, the second most common neurodegenerative disorder after Alzheimer's, were found not only in brain cells, where they were expected, but also in liver, fat, immune and developmental cells. More...
18 Aug 2016
Image: A whole-mount section of the prostate from a cystoprostatectomy specimen with extension of the urothelial carcinoma of the bladder to the prostate (arrows). The encircled area is an incidental prostatic carcinoma (Photo courtesy of European Urology).

Biomarker of Aggressive Prostate Cancer Discovered

The level of a specific molecule present in prostate tumors is an indicator of whether the cancer is aggressive and likely to spread and this will aid future clinical tests to help doctors decide how best to treat prostate tumors. More...
18 Aug 2016
Image: Sequins are small stretches of synthetic DNA to be added as a standardization control to a DNA sample during sequencing, helping analyze the large data files generated for genomic analysis. The technology is based on the notion of mirror image DNA. Sequins are essentially “mirror” images of natural DNA sequences. They behave like natural DNA sequences but can be easily recognized as synthetic (Photo courtesy of Chris Hammang, Garvan Institute of Medical Research).

Sequins As Novel Internal Controls to Improve Genomic Analysis

Researchers have developed an intuitive technology called “Sequins” – synthetic “mirror” DNA sequences that reflect the human genome and can be used to better map, navigate, and analyze complexity within the genome. Currently human genome Sequins are freely available for research. More...
16 Aug 2016
Image: A histopathology of the colon with multiple Adenomatous polyps (Photo courtesy of Group14).

Novel Gene Discovered for Hereditary Colon Cancer

The formation of large numbers of polyps in the colon has a high probability of developing into colon cancer, if left untreated. The large-scale appearance of polyps is often due to a hereditary cause; in this case the disease can occur in multiple family members. More...
08 Aug 2016
Image: An immunohistochemistry analysis of BRCA1 performed on normal tissue and human ovary carcinoma tissue (Photo courtesy of the CDC).

Gene Testing Simplified for Women with Ovarian Cancer

A new streamlined approach to genetic testing for women with ovarian cancer provides testing rapidly and affordably, allowing many more patients to benefit from personalized cancer management and their relatives to benefit from cancer prevention strategies. More...
04 Aug 2016
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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.