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Molecular Diagnostics

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
Image: A histopathology of insular thyroid carcinoma, showing the nesting patterns of the follicles (yellow arrow) and the artefactually created clefts (black arrows) (Photo courtesy of H. Lee Moffitt Cancer Center).

Biomarker Identified for Aggressive Thyroid Cancer

A biomarker has been identified for the aggressive disease of papillary thyroid cancer, which comprises about 90% of all thyroid cancers and treatment of the disease historically relied upon a combination of surgery and radioactive iodine ablation with few alternatives if the disease progresses. More...
25 Nov 2016
Image: The Infinite 200 PRO microplate reader (Photo courtesy of Tecan).

Blood Test May Help Identify Fetal Alcohol Spectrum Disorders

Fetal alcohol syndrome is a severe form of a spectrum of mental and physical disabilities called fetal alcohol spectrum disorders (FASD) that can affect children's development with long-lasting consequences and a blood test has been developed to predict the severity of disability. More...
25 Nov 2016
Image: A histopathology of rhabdoid meningiomas characterized by enlarged epithelioid cells with large nuclei and prominent nucleoli. Bright intracellular secretions (black arrows) are present. Note that the sizes of these vacuoles are several times the size of the nuclei. Intranuclear pseudoinclusions are also present (white arrows) (Photo courtesy of Kar-Ming Fung, MD, PhD).

Molecular Signature Identified for Aggressive Brain Tumor

Meningiomas are the most common primary brain tumors, but the term encompasses over a dozen subtypes that range from benign to highly aggressive. Rhabdoid meningiomas are classified as highly aggressive due to their high rates of recurrence and mortality, but the experience and outcomes for patients with this rare form of brain tumor vary widely. More...
23 Nov 2016
Image: The Cytosponge, a well-tolerated and effective means to sample the lining of the esophagus (Photo courtesy of the University of North Carolina).

Cytosponge Test Could Replace Uncomfortable Endoscopies

A ‘sponge on a string’ pill or Cytosponge test can identify which people with a condition called Barrett’s esophagus who have a low risk of developing esophageal cancer, sparing them uncomfortable endoscopies. More...
23 Nov 2016
Image: The upgraded Cartagenia Bench Lab 5.0 addresses inherent challenges of interpreting and reporting on genomic variants data (Photo courtesy of Agilent Technologies).

Software Platform Provides Capabilities for Somatic Variation Analysis

An upgraded information-processing platform enables clinical genetics and molecular pathology laboratories to achieve higher performance and efficiency in somatic variation analysis of tumor-tissue sequencing data and in reporting of tissue-typing results, among other features. More...
22 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.