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Molecular Diagnostics

Image: The LSM 780 laser scanning confocal microscope (Photo courtesy of Zeiss).

Diagnostic Tool Designed for Familial Mediterranean Fever

A tool has been developed to diagnose Familial Mediterranean Fever (FMF) which is particularly common among populations originating from around Mediterranean Sea and this genetic disease is characterized by inflammation, fever and severe pain. More...
08 Dec 2016
Image: Indirect immunofluorescence on a patient’s intestinal lining shows anti-enterocyte antibodies. Enterocytes are the cells of the intestinal lining (Photo courtesy of the NIH).

Successful Treatment of Enteritis Due to Newly Discovered Gene Mutation

Researchers report successful treatment of an adult patient with severe chronic autoimmune enteritis by using the drug Vedolizumab to target the effect on T-cell function of a mutation identified in the patient’s CTLA-4 gene. Vedolizumab may also help skin cancer patients with enteritis due to therapy with Ipilimumab. More...
07 Dec 2016
Image: These estrogen receptor-positive (ER+) breast cancer cells preserved epigenomic determinants that may be prognostic for cancer survival (Photo courtesy of the National Cancer Institute).

Multiple Biopsies Recommended for Personalized Breast Cancer Treatments

Assessment of somatic mutations is becoming increasingly important for the management of cancer patients, but molecular heterogeneity occurs across many tumors. In breast cancer, there is major interest in the use of pre-surgical studies for assessing the biological effect of therapeutic agents. More...
01 Dec 2016

Genetic Test Significantly Reduces Risk of Cardiovascular Events

A quick, precise genetic test can significantly reduce the risk of cardiovascular events by helping to identify more effective medication for some heart patients. The genetic testing allows physicians to pinpoint the best anti-clotting medication for each patient. More...
30 Nov 2016
Image: The MiSeq desktop sequencer for genome sequencing (Photo courtesy of Illumina).

Novel Urine Test Predicts High-Risk Cervical Cancer

A urine test has been developed for the likely emergence of cervical cancer that is highly accurate compared to other tests based on genetic markers derived directly from cervical tissue. More...
30 Nov 2016
Image: The discovery that carrying titin gene mutations also adversely affects heart function in apparently healthy individuals, suggests that the hearts of such people may be “primed to fail” if they also suffer from a second relevant condition (Photo courtesy of Imperial College London).

Titin Gene Mutation Increases Risk of Heart Failure

Previously thought to affect only patients with dilated cardiomyopathy, researchers have discovered that truncating variants in the gene for the protein titin also adversely affect heart function in healthy individuals, placing them at higher risk under conditions of stress. More...
29 Nov 2016
Image: A girl with uncombable hair syndrome (Photo courtesy of the University of Bonn).

Uncombable Hair Syndrome Genes Identified

Some children suffer from tangled hair that cannot be combed due to having the rare uncombable hair syndrome (UHS). Scientists have discovered that mutations in three genes encoding proteins involved in hair shaft formation lead to UHS, in Germany commonly known as Struwwelpeter Syndrome, named after a children’s storybook character. More...
29 Nov 2016
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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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