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Genetic Tests

Image: A human heart and cardiogram overlay. Researchers have found that a new approach, using comparative population genetics, improves interpretation of the medical significance of gene mutations in patients being tested for a genetic condition, such as inherited cardiomyopathy (Photo courtesy of Shutterstock / University of Oxford).

Study Leads to Improved Diagnosis of Inherited Heart Muscle Disease

In a groundbreaking study of Mendelian gene pathogenicity, using comparative population genetics, researchers have developed more accurate diagnostics for inherited cardiomyopathy. The approach improves interpretation of the medical significance of gene mutations in patients being tested for a genetic condition. More...
29 Aug 2016

Early Detection Identified for Leukemia Patients' Resistance to Therapy

A world-first breakthrough in the early detection of patients' resistance to a common treatment for chronic myeloid leukemia has been made. The discovery offers some hope that the patients' treatment could be changed sooner to improve their chances of survival. More...
25 Aug 2016
Abbott Diagnostics

Cell-Free DNA Sequencing Confirms Myelodysplastic Syndrome Diagnosis

The use of next-generation sequencing (NGS) methods to analyze cell-free DNA (cf-DNA) in the blood of patients with myelodysplastic syndrome (MDS) yields more accurate results than the current standard approach of Sanger sequencing. More...
25 Aug 2016
Image: A Denovix DS-11 spectrophotometer (Photo courtesy of Denovix).

Simple Sensitive Assays Used for Analyzing Fragile X Syndrome

Fragile X syndrome, the most common heritable cause of intellectual disability and a frequent cause of autism, is characterized by abnormalities of the fragile X mental retardation 1gene (FMR1) that are difficult to analyze. More...
25 Aug 2016

Droplet Digital PCR Rapidly Detects Alpha-Thalassemia Variants

Alpha (α)-thalassemia is a highly prevalent genetic disease worldwide and it is characterized by various degrees of alpha globin chain deficit caused by either deletional or non-deletional mutations although the former are more common. More...
24 Aug 2016
Image: Different colored dots represent the status of micro RNA in the blood. Researchers looked for similarities among blood samples from Parkinson\'s patients (Photo courtesy of Van Andel Research Institute).

Parkinson's Disease Risk Indicators Found in Diverse Tissues

Tiny changes in DNA that have been linked to Parkinson's disease, the second most common neurodegenerative disorder after Alzheimer's, were found not only in brain cells, where they were expected, but also in liver, fat, immune and developmental cells. More...
18 Aug 2016
Image: A whole-mount section of the prostate from a cystoprostatectomy specimen with extension of the urothelial carcinoma of the bladder to the prostate (arrows). The encircled area is an incidental prostatic carcinoma (Photo courtesy of European Urology).

Biomarker of Aggressive Prostate Cancer Discovered

The level of a specific molecule present in prostate tumors is an indicator of whether the cancer is aggressive and likely to spread and this will aid future clinical tests to help doctors decide how best to treat prostate tumors. More...
18 Aug 2016

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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