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Molecular Diagnostics

Image: An infant suffering from congenital hypotonia or muscle weakness (Photo courtesy of American Academy of Pediatrics).

Genetic Cause Identified for Previously Unrecognized Developmental Disorder

An international team of scientists has identified variants of the gene Early B-Cell Factor 3 (EBF3) causing a developmental disorder with features in common with autism. More...
11 Jan 2017
Image: Overview of the study pipeline beginning with collection of uterine lavage fluid at the initiation of hysteroscopy (Photo courtesy of Icahn School of Medicine at Mount Sinai).

Endometrial Cancer Mutations Detected in Uterine Lavage Fluid

Endometrial cancer is the most common gynecologic malignancy, and its incidence and associated mortality are increasing and despite the immediate need to detect these cancers at an earlier stage, there is no effective screening methodology or protocol for endometrial cancer. More...
11 Jan 2017
Image: The Biomark microfluidic system for polymerase chain reactions (Photo courtesy of Fluidigm).

DNA Levels in Blood Correlated with Ovarian Cancer Outcomes

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...
04 Jan 2017
Image: A histopathology of a skin-punch biopsy specimen in a patient with systemic sclerosis (Photo courtesy of Dr. Soumya Chatterjee, MD, MS, FRCP).

Gene Activity Predicts Progression of Autoimmune Disease

A new diagnostic tool has been designed for a rare and deadly autoimmune disease called systemic sclerosis that affects the skin and internal organs and the disease affects about 100,000 people in the USA. More...
04 Jan 2017
Image: Focal hand dystonia (Photo courtesy of Andrea Brachfeld).

New Genetic Cause Discovered for Dystonia

Dystonia is one of the commonest movement disorders and is thought to affect 70,000 people in the UK alone. It can cause a wide range of disabling symptoms, including painful muscle spasms and abnormal postures, and can affect walking and speech. More...
03 Jan 2017
Image: A histopathology of a non-small cell lung carcinoma (Photo courtesy of Librepath).

Highest Sensitivity Liquid Biopsy Test Introduced for Lung Cancer

Approximately 20% of non-small cell lung cancer (NSCLC) patients test positive for an epidermal growth factor receptor (EGFR) driver mutation and receive EGFR Tyrosine Kinase Inhibitor (TKI) therapy, but unfortunately, most will develop a resistance to this type of therapy. More...
03 Jan 2017
Image: An evaluation of RP expression specificity across human tissues, primary cells, and tumors (Photo courtesy of University of Basel\'s Biozentrum).

Ribosomal Protein Expression Specifies Normal and Malignant Human Cells

Proteins are the building blocks of life, produced by molecular machines called ribosomes. A human ribosome is composed of four ribosomal RNAs (rRNAs) and 80 ribosomal proteins (RPs), and its structure is believed to be largely invariant. More...
29 Dec 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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