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Molecular Diagnostics

Image: The MassARRAY Dx Analyzer is a benchtop multiplex genetic analyzer that simplifies the complex clinical genetics environment with easy-to-interpret data, flexible biomarker detection and robust performance (Photo courtesy of Agena Biosciences)

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
Image: Autoreactive B Cells seen in Systemic Lupus Erythematosus (Photo courtesy of Sebastian Kaulitzki)

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
Image: Schematic diagram for the identification of MSI status and tracing MSI+ tumors in plasma using Alu-PCR-MSI tracer (Photo courtesy of Dana-Farber Cancer Institute)

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
Image: Blood panels are as individual as fingerprints. Investigators have now demonstrated that this so-called molecular fingerprint of the blood is stable over time (Photo courtesy of Max Planck Institute of Quantum Optics)

Disease Diagnosis Based on Infrared Analysis of Blood Samples

A novel, infrared spectroscopy-based approach detects the status of a person’s health by monitoring changes in the molecular composition of blood samples. More...
30 Mar 2021
Image: Human chromosomes (grey) capped by telomeres (white) (Photo courtesy of U.S. Department of Energy Human Genome Program via Wikimedia Commons)

A High-Throughput Single Telomere Length Analysis Approach for Diagnosis of Telomeopathic Diseases

A high-throughput single telomere length analysis (HT-STELA) technique for measuring telomere length has been used to diagnose patients with a variety of telomeropathic diseases. More...
29 Mar 2021
Image: The NovaSeq 6000 sequencing instrument (Photo courtesy of Illumina)

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
Image: Bone marrow smear showing vacuoles in myeloid cells in a patient with VEXAS (Photo courtesy of Katherine Calvo, MD, PhD, and Marcela Ferrada, MD)

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
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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.
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