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Molecular Diagnostics

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
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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
Image: The DEPArray System for analyzing individual cells (Photo courtesy of Silicon Biosystems).

Genetic Mutation Detected in Circulating Tumor Cells

Tissue biopsies from metastatic cancer patients are invasive procedures that are frequently impossible due to the lack of accessible lesions, but a sample is required for genetic analysis.   More...
26 Oct 2014
Image: The Ion Torrent Ion AmpliSeq Cancer Primer Pool kit (Photo courtesy of Life Technologies).

Molecular Immunohistochemical Profiling Identifies Invasive Breast Carcinoma

Molecular and immunohistochemical profiling of invasive micropapillary carcinoma of the breast was used to identify potentially useful markers for targeted therapies with a focus on a specific gene mutation.   More...
23 Oct 2014
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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.
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