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Molecular Diagnostics

Image: The new quantitative multiplex assay (cMethDNA) (Photo courtesy of Johns Hopkins Kimmel Cancer Center).

Tumor DNA Blood Test Predicts Advanced Breast Cancer Survival

A blood test that spots cancer-linked DNA correctly predicted that most of those patients with higher levels of the tumor markers died significantly earlier than those with lower levels. More...
16 Feb 2017
Image: Pathogenic mutations identified with a multigene panel among 1,058 individuals with colorectal cancer (Photo courtesy of American Society of Clinical Oncology).

Broader Genetic Testing Recommended for Colorectal Cancer Risk

An expanded role for genetic testing of inherited risk has been recommended, both to help in treating people with colorectal cancer and in preventing their at-risk family members from developing it. More...
16 Feb 2017
Image: The fully automated ThunderStorm High-throughput Next-generation Target Enrichment system (Photo courtesy of RainDance Technologies).

Urinary Biomarker Assay Detects Bladder Cancer

A new test for bladder cancer could enable general practitioners to test a urine sample and spare patients the discomfort of a cystoscopy in hospital which is the gold standard test for the detection of bladder cancer, but it is operator-dependent with a sensitivity of 90% to 97%. More...
16 Feb 2017

Mutation Linked to Impaired Physical and Cognitive Development

Finding the needle in a genomic haystack: genomic sequencing has revealed a de novo splice site mutation in the brain protein CASK as genetic cause of a child’s FG syndrome-4 and congenital nystagmus. More...
14 Feb 2017
Image: A diagram depicting the deletion and some of the genes in the DiGeorge syndrome locus (Photo courtesy of Genetics 4 Medics).

Genetic Drivers Discovered for DiGeorge Syndrome Kidney Defects

DiGeorge syndrome is a chromosomal disorder that can lead to malformations in multiple organs and it is the most common microdeletion syndrome, in which a portion of a chromosome is missing. More...
10 Feb 2017
Image: The Infinium OmniExpress-24 Kit - This 24-sample BeadChip array offers exceptional throughput of thousands of samples per week, enabling powerful human genome-wide association studies (GWAS) (Photo courtesy of Illumina).

Novel Risk Genes Identified for Bipolar Disorder

Bipolar disorder (BD) is a common psychiatric disorder characterized by mood swings between positive manic/hypomanic and negative/depressive states, with a lifetime prevalence of more than 1%. More...
10 Feb 2017
Image: Researchers discovered 1,000 new gene variants in blood group data (Photo courtesy of Fotalia).

New Genetic Variants Discovered in Blood Group Systems

On the surface of the red blood cells are proteins and sugar molecules, in which small differences give rise to different antigens. The ability to identify and match blood group types is important for blood transfusions, but also in pregnancy and before certain types of transplantation. More...
10 Feb 2017
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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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