Molecular Diagnostics

Common Variant Modifiers for Syndromic Heart Condition Located
DiGeorge syndrome, also known as 22q11. 2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate. More...09 Jan 2020

Urinary Cell-Free DNA Detects Urothelial Carcinoma
Most bladder cancers start in the innermost lining of the bladder, which is called the urothelium or transitional epithelium. As the cancer grows into or through the other layers in the bladder wall, it has a higher stage, becomes more advanced, and can be harder to treat. More...08 Jan 2020


Nanopore Sequencing Rapidly Diagnoses Gut Condition in Preterm Infants
The culture-independent, sensitive, data-rich nature of metagenomic sequencing, combined with powerful bioinformatics tools, have allowed scientists to differentiate patient groups from healthy individuals based on their microbial profiles. More...03 Jan 2020

Extrachromosomal Circular DNA Drives Oncogenic Genome Remodeling in Neuroblastoma
Circularized DNA falling outside of linear chromosomes may serve as a recurrent source of somatic rearrangements in neuroblastoma, a pediatric cancer affecting immature cells in the sympathetic nervous system. More...02 Jan 2020
Liquid Biopsy Detects Breast Cancer Residual Disease
The concept of circulating DNA or tumor cells to identify patients with residual cancer present after early-stage, putatively curative treatment has made rapid strides across multiple tumor types since some of the first promising tests in colorectal cancer. More...02 Jan 2020
Standard Pathology Tests Outperform Molecular Subtyping in Bladder Cancer
Evolving diagnostic approaches include compiling databanks on gene expression and mutations present in a cancer type to find patterns of gene expression that are then used to subtype tumors that "pathologically look similar" but are molecularly different. More...02 Jan 2020
In Other News
Asthma Severity Linked to Microbiome of Upper Airway
Memory Loss in Alzheimer’s Disease Linked to Both Amyloid Plaques and Tau Tangles
Elevated Levels of Lipoprotein(a) Increase Cardiovascular Disease Risk in Patients with Type I Diabetes
Novel Liquid Biopsy Method for Detection of Cancer MicroRNA Biomarkers
Stool DNA Test Helps Detect Precancerous Lesions
Germline Genetic Testing Assesses Inherited Risk for Myeloid Malignancies
Novel Biotech-Based Field or Lab Assay for Detection of Fluoride
A Rapid Method for Isolating Viral DNA-enriched Salivary Exosomes for Diagnosis and Monitoring of Oropharyngeal Cancer
New Human Autoinflammatory Disease Identified
Distinct Myelodysplastic Syndrome Subtypes Identified by Genomic, Transcriptomic Analysis
Combining RNA Sequencing with a Learning Algorithm to Identify Single Cells in Biopsy Specimens
Genome Wide Sequencing Study Reveals Why Some Cystic Fibrosis Patients Develop Fewer Lung Infections
Virome Shifts Analyzed in Children with Islet Autoimmunity
Exposure to Human Cytomegalovirus Increases Aggressiveness of Glioblastoma and Predicts a Poorer Outcome of the Disease
Single-Cell Analysis Uncovers Regulatory Program in Rare Leukemia
Novel Biomarker Predicts Dementia Risk
Genetic Biomarkers Associated with Autism Spectrum Disorders Identified
Implement Diagnostics System Improves Infectious Disease Testing
Mutations Causing Loss of Tumor Suppressor Gene Increase Aggressiveness of Rare Bile Duct Cancer
Childhood Kidney Cancer Arises from Altered Normal Tissue
Predicting Age by Profiling Circulating Plasma Proteins
A Rapid Method for Selecting the Proper Antibiotic to Treat Multidrug Resistant Bacteria
Chronic Comorbidities Are Prevalent Among People with Chagas Disease
Genetic Testing channel of LabMedica brings the latest in molecular genetics, cytogenetics, and epigenetics, and methods from PCR to FISH, and more.








