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Molecular Diagnostics

Image: Histology of mitochondrial encephalomyopathy with ragged red fibers (Photo courtesy of Dr. K.K. Abu-Amero).

Gene Mutation Causes Devastating Mitochondrial Diseases

A novel disease gene has been identified in which mutations cause rare but devastating genetic diseases known as mitochondrial disorder. More...
19 Sep 2013

Risk Factors Predict Outcomes for Children with Hypertrophic Cardiomyopathy

The risk of death or need for immediate listing for heart transplantation for hypertrophic cardiomyopathy was greatest for those who developed the disease as infants with congestive heart failure, and for children who also had selective inborn errors of metabolism. More...
18 Sep 2013
Image: A microscope image of a neuron with inclusion, stained orange, caused by Huntington's disease (Photo courtesy of Dr. Steven Finkbeiner).

Blood Test Aids Huntington's Disease Therapy

An assay has been designed to measure normal and abnormal forms of the huntingtin protein, the mutated form of which causes Huntington's disease. More...
17 Sep 2013
Image: QX100 Droplet Digital Polymerase Chain Reaction Reader (Photo courtesy of Bio-Rad laboratories).

Droplet Digital PCR Enables Quantification of MicroRNA Biomarkers

Droplet Digital polymerase chain reaction technology can be used to precisely and reproducibly quantify micro ribonucleic acid in plasma and serum across different days. More...
16 Sep 2013
Image: The Becton Dickerson Viper System with XTR technology (Photo courtesy of Becton Dickerson).

Molecular Test Diagnoses Trichomonas vaginalis in Asymptomatic and Symptomatic Females

An amplified DNA assay for the direct qualitative detection of Trichomonas vaginalis DNA in endocervical and vaginal samples, as well as urine specimens, aids in the diagnosis of trichomoniasis. More...
12 Sep 2013

Combined Serology and Genotyping Reduces False Positive Diagnosis of Celiac Disease

A new diagnostic approach for detection of celiac disease that combines genomic assessment and serology revealed that this immune disorder is far more common in the Australian population than previously thought but was often diagnosed incorrectly. More...
09 Sep 2013
Image: OncoMap screening for DNA (Photo courtesy of Dana-Farber Cancer Institute).

Oncogenic Mutations Found in Cervical Cancer

Marked differences have been found in the genomic environment of the two most common types of cervical cancer, suggesting that patients might benefit from therapies geared to each type's molecular characteristics. More...
05 Sep 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.