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Molecular Diagnostics

Image: The Leica TCS SP5 Confocal microscope fully covers a broad range of requirements in confocal and multiphoton imaging with excellent overall performance. The system provides the full range of scan speeds at the highest resolution (Photo courtesy of Leica Microsystems).

Recognized Cause of Pediatric Mitochondrial Disease Found

Leigh syndrome is a frequent, heterogeneous pediatric presentation of mitochondrial oxidative phosphorylation (OXPHOS) disease, manifesting with psychomotor retardation and necrotizing lesions in brain deep gray matter. More...
26 Nov 2018
Image: A micrograph of a mucinous ovarian carcinoma (Photo courtesy of Wikimedia Commons).

Ovarian Cancer Test Measures Biomarker Serum Levels

A new blood test for the diagnosis of ovarian cancer measures serum levels of the biomarker N-glycolylneuraminic acid (Neu5Gc). More...
26 Nov 2018
Image: A suggested workflow of genetic testing in a person with unexplained epilepsy. Genetic tests should be re-interpreted at least every two years for pediatric patients with epilepsy (Photo courtesy of International League Against Epilepsy).

Childhood Epilepsy Diagnoses Shift with Genomic Reinterpretation

Clinical genomic tests that examine the DNA sequence of large numbers of genes are commonly used in the diagnosis and management of epilepsy in pediatric patients. The permanence of genomic test result interpretations is not known. More...
22 Nov 2018
Image: The Karius test is a comprehensive next-generation sequencing (NGS) assay performed by the CLIA-certified and CAP-accredited Karius laboratory to identify and quantify microbial cell-free DNA in plasma from more than 1,000 bacteria, DNA viruses, fungi, molds, and protozoa (Photo courtesy of Karius).

Cell-Free DNA Sequencing Test for Infectious Disease Analyzed

A number of clinical collaborators testing a cell-free DNA sequencing test for infectious disease reported interim study results and anecdotal evidence of the assay. More...
22 Nov 2018
Image: A diagram of the KidCMP cohort of children with severe cardiomyopathies from the past 21 years who were analyzed genetically (Photo courtesy of Catalina Vasilescu/University of Helsinki).

Genetic Basis of Childhood-Onset Cardiomyopathies Identified

Personalized medicine is one of the goals of the current medical studies, where the understanding of the genetic cause and disease mechanism in each individual will promote tailored forms of treatment. Investigators make an important step in this direction by deciphering genetic causes in children and their implications for treatment decisions. More...
21 Nov 2018
Image: The QIAamp circulating nucleic acid kit (Photo courtesy of Qiagen).

Potential Brain Tumor Liquid Biopsies Developed

Liquid biopsies are fluid samples from patients, for example from the blood or urine, which provide a less invasive way to monitor disease compared to tumor biopsies. A less intrusive test could be hugely beneficial for brain tumors where collecting samples can be difficult and risky for patients. More...
20 Nov 2018
Image: The Idylla microsatellite instability (MSI) assay cartridge (Photo courtesy of Biocartis).

Microsatellite Instability Assay Validated for Cancer Studies

Microsatellite instability (MSI) occurs when mismatch repair proteins (MMR) fail to fix a DNA replication error, leading to frame-shift mutations in a person's genetic code and non-functioning proteins. MSI has acted as a strong marker for genetic conditions such as Lynch syndrome that can lead to a variety of cancers. More...
20 Nov 2018
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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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