Skip to main content
Premium Trial:

Request an Annual Quote

Asuragen Receives CE Mark for Spinal Muscular Atrophy Assay

NEW YORK – Molecular diagnostic firm Asuragen said Tuesday that its in vitro diagnostic test for spinal muscular atrophy received CE marking. 

The AmplideX SMA Plus Kit can help diagnose SMA and determine if asymptomatic carriers could pass the neuromuscular disease on to their children, the company said in a statement. The test quantifies the copy number of SMN1 and SMN2, the genes associated with the disease, and detects additional variants that can impact "silent carrier" status and overall disease prognosis.

SMA is associated with a loss of functional copies of the SMN1 gene and severity is related to the number of copies of SMN2. Gene duplication variants in the SMN1 gene may help identify asymptomatic carriers of the disease, and a specific SMN2 disease modifier variant can signal a milder disease phenotype, the company added.

The PCR test requires less than an hour of hands-on time and takes four hours total to run. It's optimized for use on Thermo Fisher Scientific's Applied Biosystems Genetic Analyzers.

The Scan

Study Tracks Off-Target Gene Edits Linked to Epigenetic Features

Using machine learning, researchers characterize in BMC Genomics the potential off-target effects of 19 computed or experimentally determined epigenetic features during CRISPR-Cas9 editing.

Coronary Artery Disease Risk Loci, Candidate Genes Identified in GWAS Meta-Analysis

A GWAS in Nature Genetics of nearly 1.4 million coronary artery disease cases and controls focused in on more than 200 candidate causal genes, including the cell motility-related myosin gene MYO9B.

Multiple Sclerosis Contributors Found in Proteome-Wide Association Study

With a combination of genome-wide association and brain proteome data, researchers in the Annals of Clinical and Translational Neurology tracked down dozens of potential multiple sclerosis risk proteins.

Quality Improvement Study Compares Molecular Tumor Boards, Central Consensus Recommendations

With 50 simulated cancer cases, researchers in JAMA Network Open compared molecular tumor board recommendations with central consensus plans at a dozen centers in Japan.