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Molecular Diagnostics

Blood Test for Early-Onset Alzheimer's Disease Relies on Exosomal MicroRNA Biomarkers

A team of Australian biomedical researchers has devised a blood test based on expression profiling of small non-coding RNA’s, microRNA, for the diagnosis of early-onset Alzheimer's disease.   More...
09 Nov 2014
Image: The GAIIx genome analyzer (Photo courtesy of Illumina).

Rapid Test Diagnoses Severe Sepsis

A rapid test has been developed that could help physicians predict within an hour if a patient will develop severe sepsis so they can begin treatment immediately.   More...
04 Nov 2014
Image: The cystic fibrosis transmembrane conductance regulator (CFTR) channel protein controls the flow of H2O and Cl- ions into and out of lung cells. When CFTR is working correctly (Panel 1), these ions flow in and out. However, when CFTR is malfunctioning (as in Panel 2), these ions cannot flow out of the cell due to channel blockage, leading to the buildup of thick mucus in the lungs characteristic of cystic fibrosis (Photo courtesy of Wikimedia (user Lbudd14)).

New Prenatal Cystic Fibrosis Tests Improve CFTR Screening Options

A new set of prenatal cystic fibrosis screening tests offer flexibility and comprehensiveness in screening for important CFTR gene variants.  More...
03 Nov 2014
Image

Clinical Exome Sequencing Genetically Identifies Rare Mendelian Disorders

Advances in next-generation sequencing technologies have decreased the cost of sequencing per base pair about 10-fold, improved accuracy, and greatly increased the speed of generating sequence data.  More...
28 Oct 2014

Prostate Cancer Specific RNAs Identified in Urine and Tissue

Researchers have discovered a set of potential-biomarker RNAs that may pave the way to a more reliable prostate cancer screening assay.  More...
27 Oct 2014
Image: In contrast to tests that use MPSS (massively parallel shotgun sequencing), randomly sequencing all cell-free DNA (cfDNA), the Harmony test focuses on cfDNA from the chromosomes of interest. This unique, directed approach allows deeper analysis and ultimately yields more accurate results (Photo courtesy of Ariosa Diagnostics).

DNA-Based Blood Test Detects Down Syndrome as Early as the Tenth Week of Pregnancy

Down syndrome can now be detected using a noninvasive blood test to evaluate cell-free DNA found in maternal blood as early as 10 weeks into pregnancy.   More...
27 Oct 2014
Image: Tumor cell populations identified using digital image analysis from a stained pathology slide, with the tumor regions detected and now colored orange (Photo courtesy of Definiens).

Biomarker Reveals Cause of Papillary Thyroid Carcinoma

The expression of the CAP-GLY domain containing linker protein 2 provides information on whether a papillary thyroid carcinoma was induced by radiation or had a sporadic origin.  More...
26 Oct 2014
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