Molecular Diagnostics
Newborn Exome Sequencing Locates Inborn Errors of Metabolism
Inborn errors of metabolism (IEM) form a large class of genetic diseases involving congenital disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substrates into others products. More...25 Aug 2020
Single-Cell Analysis Provides New Insights into Mitochondrial Diseases
Mitochondrial diseases result from failure of mitochondria, specialized compartments within cells that contain their own DNA and produce the energy needed to sustain life. Some of the most challenging mitochondrial disorders arise from mutations in mitochondrial DNA (mtDNA), a high-copy-number genome that is maternally inherited. More...24 Aug 2020
Isoform-Specific Loss Of Dystonin Causes Charcot-Marie-Tooth Disease
CMT is divided into demyelinating (type 1) and axonal (type 2) forms of the disease based on clinical, electrophysiological, histological, and genetic features. Recessively inherited demyelinating neuropathies are called CMT4, whereas recessively inherited axonal neuropathies are called autosomal recessive (AR)-CMT. More...20 Aug 2020
Blood Bank NAT-Based Assay Prevents Transfusion-Transmitted Malaria
Blood transfusion is an essential component of health care, which saves millions of lives across the world. The screening of blood donors for transfusion-transmissible agents is crucial in reducing risks of transfusion of infected units. More...20 Aug 2020
Lab Profiles Differentiate MIS-C From Severe Pediatric COVID-19
Initial reports from the Severe Acute Respiratory Coronavirus 2 (SARS-CoV-2) pandemic described children as being less susceptible to Coronavirus Disease 2019 (COVID-19) than adults. Subsequently, a severe and novel pediatric disorder termed Multisystem Inflammatory Syndrome in Children (MIS-C) emerged. More...19 Aug 2020
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In Other News
Two Simple Methods Prepare DNA Suitable For Digital PCR
Elevated Glycolated Hemoglobin in Young People Predicts Likelihood of Diabetes or Cardiovascular Disease in Adulthood
Diagnostic Test Identifies Resistance Mutation that Enables Use of Inexpensive, Single Dose Gonorrhea Drug
Panel of Five Serum Biomarkers Identifies COVID-19 Patients at High Risk to Develop Serious Complications
Host Genetic, Environmental Factors Influence Urinary Tract Microbiome
Automated Malaria Diagnosis Enhanced by Deep Neural Networks
Phosphorylated-Tau Blood Test Identifies Asymptomatic Alzheimer’s Disease
Somatic Evolution Identified in Non-Neoplastic IBD-Affected Colon
Liquid Biopsy Test Accurately Detects Cancer in Nonsymptomatic Individuals
Elevated Angiotensin 1–7/Angiotensin II Ratio Predicts Favorable Outcomes in Patients with Heart Failure with Potential Link to COVID-19 Patients
Nanostar Biosensors Use Raman Scattering for Direct Detection of Cancer-Related MicroRNAs
Pediatric Ependymoma Single-Cell Analysis Signatures Linked to Outcomes
Combined Proteomic/Genomic Method Detects Early Signs of Pancreatic Cancer
RNA Sequencing Identifies Novel Cell Class Linked to Rheumatoid Arthritis Flares
Plasma Lipidome Investigated in Hereditary Hemochromatosis
Circulating Tumor DNA Associated with Triple-Negative Breast Cancer Recurrence
CtDNA Assay for Cancer Recurrence, MRD Applications Demonstrated
COVID-19 Patients with Lymphocytopenia Are Likely to Suffer Severe Disease Symptoms
Blood Plasma Biomarker Linked to Middle Age Cognitive Decline
Immunogenomic Landscape of Hematological Malignancies Mapped
Elevated Levels of Two Protein Biomarkers Indicate Potential for Development of Pre-Eclampsia
Clonal Hematopoiesis of Indeterminate Potential Associated with hsC-Reactive Protein
Combined DNA/RNA Liquid Biopsy Test Identifies Genetic Aberrations in Metastatic Prostate Cancer
Genetic Testing channel of LabMedica brings the latest in molecular genetics, cytogenetics, and epigenetics, and methods from PCR to FISH, and more.