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Molecular Diagnostics

Image: The MinION, a small hand-held device that \"decodes\" individual strands of DNA in real-time (Photo courtesy of Dr. Sophie Zaaijer).

DNA Sequencing Reduces Huntington's Disease Diagnosis

Huntington's disease is an inherited neuro-degenerative disorder, which stops parts of the brain working properly, with symptoms worsening over time, and is usually fatal within 20 years. Currently individuals with symptoms of Huntington's disease have a blood test and can wait up to four weeks for the result. More...
23 Apr 2019
Image: A histopathology of Hirschsprung’s disease, which is characterized by the absence of parasympathetic ganglion cells in both submucosal as well as myenteric plexuses in the distal gastrointestinal tract (Photo courtesy of Dr. Dharam Ramnani).

Suite of Risk Variants Revealed in Hirschsprung's Disease

Hirschsprung’s disease, or congenital aganglionosis, is a developmental disorder of the enteric nervous system and is the most common cause of intestinal obstruction in neonates and infants, often appearing in combination with other symptoms in a manner that may reflect specific syndromes. More...
23 Apr 2019
Image: The distribution of melanoma-derived exosomes (red) in mouse lymph nodes (blue) (Photo courtesy of Centro Nacional de Investigaciones Oncológicas).

Analysis of Melanoma Exosomes Identifies Potential Relapse Risk

A team of Spanish cancer researchers demonstrated that it was possible to detect the BRAFV600E mutation in exudative seroma-derived extracellular vesicles of patients following melanoma surgery, and its detection correlated with the likelihood that the patients would relapse. More...
22 Apr 2019
Image: A gram-negative stained culture of Fusobacterium nucleatum (Photo courtesy of J. Michael Miller, Ph.D., (D)ABMM).

CRC Gut Microbial Signatures Lead to Diagnostic Tests

Colorectal cancer (CRC), also known as bowel cancer and colon cancer, is the development of cancer from the colon or rectum (parts of the large intestine). A cancer is the abnormal growth of cells that have the ability to invade or spread to other parts of the body. More...
18 Apr 2019
Image: The Envisia Genomic Classifier Kit improves diagnosis for patients undergoing evaluation for interstitial lung diseases (ILDs), including idiopathic pulmonary fibrosis (IPF) (Photo courtesy of Veracyte).

Genomic Classifier Test for Lung Disease Validated

In the appropriate clinical setting, the diagnosis of idiopathic pulmonary fibrosis (IPF) requires a pattern of usual interstitial pneumonia to be present on high-resolution chest computerized tomography (HRCT) scan or surgical lung biopsy. More...
18 Apr 2019
Image: A Target Enrichment Kit (Photo courtesy of Roche Life Sciences).

Rare Coding Mutations Associated with Alzheimer’s Disease

Alzheimer disease (AD) is the most common type of dementia and affects an estimated 5.7 million individuals in the USA, with the number projected to rise to 14 million by 2050. More...
17 Apr 2019
Image: The hand and foot a patient with Opitz C Syndrome (Photo courtesy of Dr. Jorge Avina).

Genetic Diagnosis of Opitz C Syndrome Advanced

Opitz C syndrome (OCS), an ultra-rare disease that causes serious physical and intellectual disabilities, has a heterogeneous genetic base that makes its medical diagnostic and therapeutic intervention difficult. More...
16 Apr 2019
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