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Molecular Diagnostics

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
Image: The prevalence within the general population is provided as percentage for combinations of parental ages, extrapolated from the maternal and paternal rates of de novo mutations (Photo courtesy of Wellcome Trust Sanger Institute).

Genetic Study Identifies Developmental Disorders in Children

The largest ever genetic study of children with previously undiagnosed rare developmental disorders has discovered 14 new developmental disorders. The study also provided diagnoses of rare conditions for over a thousand children and their families. More...
10 Feb 2017
Image: The Biomark microfluidic system for polymerase chain reactions (Photo courtesy of Fluidigm).

Blood Test Monitors Relapsed Serous Ovarian Cancer

The development of blood biomarkers that can be used for early detection of cancer or to measure tumor burden and response to treatment is a major goal of translational cancer studies across all cancer types. More...
09 Feb 2017
Image: The QuantStudio 12K Flex real-time PCR instrument (Photo courtesy of ANDbio).

Real-Time PCR Assay Developed for Detection of Candida

Vulvovaginal candidiasis (VVC) is a common condition characterized by vulvovaginal inflammation in combination with detection of one or more of several Candida species and after bacterial vaginosis, VVC is the second most common cause of vulvovaginitis. More...
09 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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