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Molecular Diagnostics

Image: Histopathology of Lewy bodies in the midbrain. A Lewy body in a melanized neuron from the substantia nigra. The Lewy body is the spherical body indicated by an arrow (Photo courtesy of Dr. Susan Daniel).

Five Genes Help Predict Lewy Body Dementia

Lewy body dementia usually affects people over 65 years old. Early signs of the disease include hallucinations, mood swings, and problems with thinking, movements, and sleep. Patients who initially have cognitive and behavioral problems are usually diagnosed as having dementia with Lewy bodies, but are sometimes mistakenly diagnosed with Alzheimer’s disease. More...
10 Mar 2021
Image: Histopathological image of sarcoidosis in a lymph node biopsy (Photo courtesy of Wikimedia Commons)

Low Lymphocyte Counts Linked to More Severe Sarcoidosis Inflammation

A recent paper identified unique phenotypes of sarcoidosis and demonstrated the relationship between these phenotypes and inflammatory activity, as measured by serologic markers of inflammation and avidity on 18FDG-PET/CT scan. More...
09 Mar 2021
Image: Exosomes are 30-150 nanometer extracellular vesicles containing various cargoes such as RNA and proteins (Photo courtesy of Wikimedia Commons)

Childrens’ Urinary MicroRNAs Predict Future Development of Heart or Kidney Diseases

A panel of microRNAs isolated from the urine of young children was shown to be able to predict the likelihood that a child would develop heart or kidney disease later in life. More...
08 Mar 2021
Image: Histopathologic image from a patient with Li Fraumeni syndrome showing accumulation of mutant TP53 in tumoral cells (Photo courtesy of Thierry Soussi, PhD).

Clinical Germline Testing Evaluated for Pediatric Cancer Patients

Pediatric cancer is rare, with fewer than 10,000 solid tumors diagnosed in children annually in the USA. Previous studies interrogating germline predisposition broadly across pediatric cancer types have found heritable germline predisposition in 8%–12% of patients. More...
04 Mar 2021
Image: The M220 Focused-ultrasonicator is used for DNA Shearing for Next-Generation Sequencing (Photo courtesy of Covaris).

Genetic Risk of Inflammatory Bowel Disease Appears Distinct in African Americans

The inflammatory bowel diseases Crohn’s disease (CD) and ulcerative colitis (UC) arise in the context of inappropriate activation of the intestinal immune system in response to an environmental trigger in individuals who are genetically predisposed. More...
03 Mar 2021
Image: The QX200 Droplet Digital PCR system (Photo courtesy of Bio-Rad).

ctDNA Provides Prognostic Clues in Advanced BRAF-Mutated Melanoma Cases

A BRAF mutation is a change in a BRAF gene. That change in the gene can lead to an alteration in a protein that regulates cell growth that could allow the melanoma to grow more aggressively. Approximately half of melanomas carry this mutation and are referred to as mutated, or BRAF positive. More...
02 Mar 2021
Image: Illustration of a lateral flow assay (LFA) (Photo courtesy of U.S. National Aeronautics and Space Administration via Wikimedia Commons)

Rapid Lateral Flow Assays Detect COVID-19 Variants and Differentiate COVID-19 from Other Respiratory Viral Diseases

A recent publication reported the development of two rapid diagnostic tests - one that detects COVID-19 variants and one that differentiates COVID-19 from other respiratory viral diseases. More...
02 Mar 2021
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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.