Molecular Diagnostics

Whole-Genome Sequencing Aids Rare Disease Diagnosis
Diagnostics of genetic diseases are currently being revolutionized, due to breakthroughs in sequencing technology and data analysis. The potential to transform clinical medicine using genomics is high, especially within the realm of rare diseases. More...01 Apr 2021

Lupus Genetic Risk Variant Allelic Enhancer Activity Discovered
Systemic lupus erythematosus (SLE) affects about 300,000 people in the USA, the majority of whom are women. Previous studies have implicated both genetic and environmental contributors to the condition. While nearly 100 genetic loci have been associated with lupus, it is also closely tied to previous infection with Epstein-Barr virus. More...31 Mar 2021

PCR Method Identifies Microsatellite Instability in Tumor-Derived Samples
Sensitive detection of microsatellite instability (MSI) in tissue or liquid biopsies using next generation sequencing (NGS) has growing prognostic and predictive applications in cancer. However, the complexities of NGS make it cumbersome as compared to established multiplex-PCR detection of MSI. More...31 Mar 2021



Genome Sequencing More Informative than Cytogenetic Analysis in Myeloid Cancers
Genetic profiling is a routine component of the diagnostic workup for an increasing number of cancers and is used to predict clinical outcomes and responses to targeted therapies. Genomic analysis is essential for risk stratification in patients with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS). More...24 Mar 2021

Genetic Mutations Identified for Rare VEXAS Syndrome
VEXAS syndrome is a serious inflammatory condition which develops in men over 50, causing them to become very sick and fatigued, and can be fatal. It was originally thought to be rare, but a new study has identified genetic mutations which indicate that the disease is actually much more common. More...23 Mar 2021
In Other News
Immune Cells in Cerebrospinal Fluid Predict Response to Immunotherapy
A Rapid, Non-Invasive Skin Test for Diagnosis of Parkinson’s Disease
Pediatric Pancreatic Cancer Diagnosed from cfDNA Fragments in Urine
Clonal Hematopoiesis and Recurrent Mutations Identified in Blood Cancers
Liquid Biopsy Technique Detects Circulating Tumor Cells in Patients with Non-Small Cell Lung Cancer
Analysis of Urinary Exosome RNA Can Diagnose Kidney Transplant Rejection
Whipple’s Disease Pathogen Found in International Diarrhea Patients
Five Genes Help Predict Lewy Body Dementia
Low Lymphocyte Counts Linked to More Severe Sarcoidosis Inflammation
Childrens’ Urinary MicroRNAs Predict Future Development of Heart or Kidney Diseases
Clinical Germline Testing Evaluated for Pediatric Cancer Patients
Genetic Risk of Inflammatory Bowel Disease Appears Distinct in African Americans
ctDNA Provides Prognostic Clues in Advanced BRAF-Mutated Melanoma Cases
Rapid Lateral Flow Assays Detect COVID-19 Variants and Differentiate COVID-19 from Other Respiratory Viral Diseases
Elevated Plasma Levels of Glial Fibrillary Acidic Protein Indicate Increased Alzheimer’s Risk
Pulse-Controlled Amplification Tested for Infectious Disease Diagnostics
22-Gene Genomic Classifier Validated in Recurrent Prostate Cancer Patients
Plasma or Urine Liquid Biopsy Tests May Guide Colorectal Cancer Treatment
Proteogenomic and Metabolomic Studies Characterize Human Glioblastoma
Study Confirms Value of the MyProstateScore Urine Test for Prostate Cancer Screening
Next Generation Sequencing Finds More Gene Mutations for Leukemia
Exome Sequencing Identified Pathogenic Variants in Cerebral Palsy Patients
Analysis of Cell-free DNA in the Blood May Replace Examination of Biopsy Specimens for Disease Diagnosis
Genetic Testing channel of LabMedica brings the latest in molecular genetics, cytogenetics, and epigenetics, and methods from PCR to FISH, and more.








