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Molecular Diagnostics

Image: The Vanadis Core Cell-Free DNA analysis unit (Photo courtesy of PerkinElmer).

Novel Cell‐Free DNA Screening Assay Validated for Trisomies

Prenatal screening for trisomies 21, 18, and 13 is currently performed using multiple maternal serum and ultrasound markers. Clinical implementation studies of maternal plasma cell‐free (cf)-DNA testing have demonstrated a much higher sensitivity and specificity for these trisomies. More...
10 Sep 2019
Image: By measuring the methylation rate of microRNA, various cancer states can be detected (Photo courtesy of Osaka University).

Methylated MicroRNAs Prove Biomarkers for Early Detection of Cancer

A team of Japanese cancer researchers has shown that microRNA methylation was a more powerful indicator of early-stage pancreatic cancer than were established biomarkers, such as unmodified microRNAs. More...
09 Sep 2019
Image: A micrograph showing a mycosis (aspergillosis). The Aspergillus (which is spaghetti-like) is seen in the center and surrounded by inflammatory cells and necrotic debris (Photo courtesy of Wikimedia Commons).

New Official Guideline Summarizes Advances in Fungal Infections Diagnosis

An official clinical guideline on laboratory diagnosis of fungal infections in pulmonary and critical care medicine was released in a recent publication. More...
09 Sep 2019
Image: The top and front view of the three-dimensional structure of the pentameric nicotinic acetylcholine receptor, which is damaged or destroyed in myasthenia gravis (Photo courtesy of Wikimedia Commons).

Metabolites Pattern Distinguishes Myasthenia Gravis from RA Patients

A team of Canadian researchers used a pattern of 12 metabolites to distinguish myasthenia gravis patients from healthy individuals or from those with rheumatoid arthritis. More...
09 Sep 2019
Image: Risk stratification integrating genetic data for factor VIII inhibitor development in patients with severe hemophilia (Photo courtesy of Paris-Saclay University).

Genetics Affect Risk of Developing Factor VIII Inhibitors

For severe hemophilia A (HA) patients, the current standard of care includes regular prophylactic infusions of factor VIII (FVIII) products in order to prevent spontaneous bleeds or on demand infusions to treat bleeds. More...
06 Sep 2019
Image: The E.Z.N.A Stool Extraction Kit Isolates DNA from stool samples using spin columns (Photo courtesy of Omega Bio-tek).

Type 1 Diabetes Risk Reflected in Gut Microbiome

Type 1 diabetes mellitus (T1D) is an autoimmune disorder characterized by the destruction of insulin-producing ß-cells in the pancreas, resulting in a life-long dependence on exogenous insulin. T1D is an autoimmune condition that can develop at any age. More...
06 Sep 2019
Image: The cobas e 411 analyzer is a fully automated analyzer that uses a patented Electrochemiluminescence technology for immunoassay analysis (Photo courtesy of Roche Diagnostics).

Persistent C-Peptide Secretion in Type 1 Diabetes Genetic-Related

Studies using sensitive assays for C-peptide have shown that some degree of residual insulin secretion commonly persists for more than five years after diagnosis of type 1 diabetes. There is variation in C-peptide persistence, the determinants of which are poorly understood but may be partly genetically determined. More...
04 Sep 2019
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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.