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Molecular Diagnostics

Image: Electron micrograph showing an increased number of mitochondria in the subsarcolemmal space from a patient with mitochondrial myopathy (Photo courtesy of the Virginia Commonwealth University).

Myopathy Diagnosis Improved by New Gene Mutation

A new gene mutation has been discovered which will help doctors give a more accurate diagnosis of a particular type of brain and muscle disease in children.  More...
08 Jan 2014
Image: PCR products of methylenetetrahydrofolate reductase C677T DNA samples extracted with magnetic nanoparticles using saliva samples (lanes 1-5) and with traditional methods using blood samples (lanes 7-11) (Photo courtesy of Neural Regeneration Research).

Analysis of Saliva DNA Suggested for Screening Stroke-Linked Mutation

Results of real-time PCR analysis of saliva samples from stroke patients and normal controls obtained using a noninvasive magnetic nanoparticle-based technique were consistent with those from conventionally treated blood samples, which had been taken at the same time.  More...
06 Jan 2014
Image: Biacore Sensor Chip for ligand capture (Photo courtesy of GE Healthcare).

Newly Identified Immune Receptor Activates B Cells in Autoimmunity

A newly identified immune protein influences each person's response to vaccines and risk for autoimmune diseases like systemic lupus erythematosus and multiple sclerosis.   More...
01 Jan 2014
Image: An 8-month-old infant with an extensive cleft palate associated with the genetic condition Bamforth- Lazarus syndrome (Photo courtesy of Maynika V Rastogi and Stephen H LaFranchi).

Dominant Gene Mutations Causes Van der Woude Syndrome

A new gene has been identified that is related to the Van der Woude syndrome, the most common syndrome with cleft lip and palate.   More...
01 Jan 2014
Image: Map illustrating relative rates of type 2 diabetes in countries in the Americas. The newly discovered genetic risk factor for type 2 diabetes could account for as much as 20% of the increased prevalence in these populations (Photo courtesy of Broad Institute; adapted by Lauren Solomon, Broad Communications, from image at International Diabetes Federation).

New Genetic Risk Factor for Type 2 Diabetes Uncovered

Another genetic factor has now been found to contribute to an increased risk of developing type 2 diabetes, particularly the elevated risk among Mexican and other Latin American populations.  More...
31 Dec 2013
Image: In vitro fertilization of the oocyte (Photo courtesy of Dr. Geoffrey Sher).

Genome Sequencing Detects Defects in Human Oocytes

A safe, accurate, and low-cost method to select genetically normal embryos for the in vitro fertilization procedure can increase a couple's chance of producing a healthy child.  More...
30 Dec 2013
Image: Orbitrap Velos Pro hybrid ion trap mass spectrometer (Photo courtesy of Thermo Scientific).

Standardized Assays Developed to Quantify Human Proteins

The feasibility of large-scale standardized protein measurements, which are necessary for validation of disease biomarkers, has been developed.    More...
30 Dec 2013
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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.