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Molecular Diagnostics

Image: Karyotype of Trisomy 22 showing three copies of chromosome 22 (Photo courtesy of Ewha Womans University School of Medicine).

New Genetic Sequencing Methods Means Accurate Embryo Screening

The clinical application of next generation DNA sequencing, a high throughput sequencing method, has the potential to revolutionize pre-implantation genetic screening.  More...
10 Jun 2014

New Software Tool Rapidly Finds Links Between Mutations and Disease in Families

A recent paper described a new software tool that allows the rapid sequencing of genes shared by families, which gives a more accurate picture of the linkage between mutations and disease.  More...
10 Jun 2014
Image: Exome sequencing workflow: Double-stranded genomic DNA is fragmented by sonication. Linkers are then attached to the DNA fragments, which are then hybridized to a capture microarray designed to target only the exons (Photo courtesy of Sarah Kusala).

Exome Sequencing Covers Specific Gene Sets Ineffectually

Clinical diagnosis can be made using exome sequencing, but may be regularly missed as there appears to be a high false-negative rate using existing sequencing kits.   More...
09 Jun 2014
Image: The HumanHT-12 v4 BeadChip Kit uses the DirectHyb Assay and is compatible with the iScan, HiScan, and Bead Array Reader systems (Photo courtesy of Illumina).

Microarray Analysis of Gene Expression Signatures in Blood Samples Provides Biomarker for Higher Cardiovascular Death Risk

Differences in gene expression have been found among a population of coronary artery disease patients that seemed to indicate which of them were at higher risk of dying from the illness.  More...
09 Jun 2014
Image: The Myriad myRisk Hereditary Cancer test uses next-generation sequencing to evaluate multiple clinically significant hereditary cancer genes associated with eight major hereditary cancers (Photo courtesy of Myriad Genetics).

New Multigene Test Improves Assessment of Hereditary Cancers

New clinical data shows that a test covering multiple relevant genes not only detects more deleterious mutations than single cancer tests, but also helps solve the overlap-dilemma that exists among hereditary cancer syndromes.  More...
09 Jun 2014
Image: Scanning electron micrograph of human papillomavirus (HPV) (Photo courtesy of University of Washington).

Many Healthy Adults Infected with Human Papilloma Viruses

The largest and most detailed genetic analysis has revealed that 69% of healthy American adults are infected with one or more of 109 strains of human papillomavirus.  More...
05 Jun 2014
Image: Scanning electron micrograph of Methicillin-resistant Staphylococcus aureus and a dead human neutrophil (Photo courtesy of the US National Institute of Allergy and Infectious Diseases).

Nasal Bacteria Could Predict Skin Infections

Bacteria found in the nose may be a key indicator for future development of skin and soft-tissue infections in remote areas of the body.   More...
05 Jun 2014
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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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