We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress
Sign In
Advertise with Us
ZeptoMetrix an Antylia scientific company

Download Mobile App




Simple Blood Test Rapidly Diagnoses Rare Neurometabolic Condition

By LabMedica International staff writers
Posted on 07 Jun 2023
Print article
Image: A new diagnostic blood test can detect a rare but treatable condition called De Vivo disease (Photo courtesy of Freepik)
Image: A new diagnostic blood test can detect a rare but treatable condition called De Vivo disease (Photo courtesy of Freepik)

De Vivo disease, also known as glucose transporter type 1 deficiency syndrome (GLUT1-DS), is an uncommon but manageable condition usually characterized by developmental delays, epilepsy, and/or movement disorders in children. Despite the availability of metabolic therapies that can significantly improve symptoms, including epileptic seizures, prompt diagnosis is vital as these treatments are most beneficial when initiated early. Unfortunately, current diagnostic measures often involve invasive methods such as lumbar punctures or complex DNA analysis, which limits their usage. Now, a simple and rapid blood test that is capable of diagnosing De Vivo disease with ease in both adults and children within 48 hours offers a breakthrough for detecting this rare but treatable condition.

A group of researchers from the AP-HP Paris (Paris, France) public hospitals network has developed an innovative diagnostic blood test for De Vivo disease that enables rapid screening for the condition. The revolutionary test has the potential to streamline screening for all patients presenting symptoms such as cognitive impairment, movement disorders, epilepsy, or a combination of these conditions.

In a trial involving 30 De Vivo disease patients of varying ages and symptoms, the diagnostic blood test was compared with samples from 346 healthy individuals. The test demonstrated significant reliability, accurately identifying 78% of De Vivo disease patients, including those with inconclusive genetic analysis. Encouraged by these findings, the researchers have recommended incorporating the new test in standard clinical practice across all neuropediatric and neurology departments. Given its simplicity, the team is optimistic that the test will allow for the diagnosis of more patients with De Vivo disease.

Related Links:
AP-HP Paris 

Platinum Member
COVID-19 Rapid Test
OSOM COVID-19 Antigen Rapid Test
Magnetic Bead Separation Modules
MAG and HEATMAG
POCT Fluorescent Immunoassay Analyzer
FIA Go
New
Gold Member
TORCH Panel Rapid Test
Rapid TORCH Panel Test

Print article

Channels

Clinical Chemistry

view channel
Image: The 3D printed miniature ionizer is a key component of a mass spectrometer (Photo courtesy of MIT)

3D Printed Point-Of-Care Mass Spectrometer Outperforms State-Of-The-Art Models

Mass spectrometry is a precise technique for identifying the chemical components of a sample and has significant potential for monitoring chronic illness health states, such as measuring hormone levels... Read more

Hematology

view channel
Image: The CAPILLARYS 3 DBS devices have received U.S. FDA 510(k) clearance (Photo courtesy of Sebia)

Next Generation Instrument Screens for Hemoglobin Disorders in Newborns

Hemoglobinopathies, the most widespread inherited conditions globally, affect about 7% of the population as carriers, with 2.7% of newborns being born with these conditions. The spectrum of clinical manifestations... Read more

Immunology

view channel
Image: The AI predictive model identifies the most potent cancer killing immune cells for use in immunotherapies (Photo courtesy of Shutterstock)

AI Predicts Tumor-Killing Cells with High Accuracy

Cellular immunotherapy involves extracting immune cells from a patient's tumor, potentially enhancing their cancer-fighting capabilities through engineering, and then expanding and reintroducing them into the body.... Read more

Microbiology

view channel
Image: The T-SPOT.TB test is now paired with the Auto-Pure 2400 liquid handling platform for accurate TB testing (Photo courtesy of Shutterstock)

Integrated Solution Ushers New Era of Automated Tuberculosis Testing

Tuberculosis (TB) is responsible for 1.3 million deaths every year, positioning it as one of the top killers globally due to a single infectious agent. In 2022, around 10.6 million people were diagnosed... Read more
Copyright © 2000-2024 Globetech Media. All rights reserved.