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Molecular Diagnostics

Image: Crypts and buds in the small intestine and colon (Photo courtesy of Dr. Maree Faux, Walter and Eliza Hall Institute)

Circulating Tumor DNA Following Surgery Predicts Colorectal Cancer Recurrence

 According to a recent paper, levels of circulating tumor DNA (ctDNA) – which can be measured using noninvasive liquid biopsy – predict the likelihood of recurrence of colorectal cancer following surgery. More...
14 Jun 2021
Image: The NovaSeq 6000 performs whole-genome sequencing (Photo courtesy of Illumina)

Familial Hypercholesterolemia Tends to Slip Past Genetic Tests

Familial hypercholesterolemia is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL), in the blood and early cardiovascular disease. The most common mutations diminish the number of functional LDL receptors in the liver. More...
10 Jun 2021
Image: Bone marrow aspirate showing mature plasma cells with eccentric nuclei and abundant basophilic cytoplasm indicative of multiple myeloma (Photo courtesy of Dr. David Israel Garrido, MD et.al.)

Personalized CtDNA Analysis Detects Minimal Residual Disease

Multiple myeloma (MM), is a type of bone marrow cancer. It is called multiple myeloma as the cancer often affects several areas of the body, such as the spine, skull, pelvis and ribs. Minimal residual disease (MRD) is the name given to small numbers of leukemic cells that remain in the person during treatment, or after treatment when the patient is in remission. More...
08 Jun 2021
Image: First biomarker in blood that distinguishes myocarditis from an acute myocardial infarction (Photo courtesy of Centro Nacional De Investigaciones Cardiovasculares)

Blood MicroRNA Biomarker Distinguishes Myocarditis from Myocardial Infarction

A novel microRNA has been found that can be used to distinguish patients with myocarditis from those with myocardial infarction. More...
08 Jun 2021
Image: Extracting tumor epigenetics from blood (Photo courtesy of Tatjana Hirschmugl)

A Novel Liquid Biopsy Technique for Diagnosis of Cancers in Children

A novel liquid biopsy technique for cancer diagnosis in pediatric patients detects and quantifies epigenetic signatures based on cell-free DNA (cfDNA) fragmentation patterns. More...
07 Jun 2021
Image: Mutation profiles of clinically actionable genes in GEM ExTra. The twelve most reported genes and their mutation distribution across tumor types (Photo courtesy of Ashion Analytics)

Analytic Validation and Clinical Utilization of Comprehensive Genomic Profiling Test

Cancer has a high clinical burden and oncology therapies are expensive. It is estimated that 1,898,160 new cancer cases will be diagnosed and over 608,570 deaths are projected to occur in the USA in 2021. The prevalence of cancer is expected to rise over time, providing an expanding unmet need for genomic tests to help physicians treat patients in a more precise manner. More...
02 Jun 2021
Image: Schematics of the workflow for the Geneseeq Prime 425-gene panel (Photo courtesy of Geneseeq Technology)

Colorectal Cancer Relapse Predicted by ctDNA Clearance

Colorectal cancer (CRC) is the third most common cancer around the world with more than 1.9 million new cases diagnosed annually. CRC is also the second leading cause of cancer-related deaths with a 5-year mortality rate of about 40%. More...
01 Jun 2021
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