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
Siemens Healthineers - Laboratory Diagnostics

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 

New
Platinum Supplier
COVID-19 Rapid Test
OSOM COVID-19 Antigen Rapid Test
New
Gold Supplier
Rapid Flu Test
Influenza A&B Rapid Test Kit
New
Pregnancy Test
Viola
New
Tuberculosis Antibody Test
Tuberculosis lgG/lgM Rapid Test

Print article
GLOBETECH PUBLISHING LLC

Channels

Clinical Chemistry

view channel
Image: The new assays are designed to run on the B•R•A•H•M•S KRYPTOR compact PLUS clinical chemistry analyzer (Photo courtesy of Thermo Fisher)

Breakthrough Immunoassays to Aid in Risk Assessment of Preeclampsia

Preeclampsia is a life-threatening blood pressure condition that can arise during pregnancy and the postpartum phase. This severe pregnancy complication is a primary cause of maternal and fetal mortality... Read more

Hematology

view channel
Image: The US FDA has cleared HemoScreen point of care CBC for direct capillary sampling (Photo courtesy of PixCell Medical)

Point of Care CBC Analyzer with Direct Capillary Sampling Enhances Ease-of-Use and Testing Throughput

The world’s only 5-part differential Complete Blood Count (CBC) analyzer that is FDA-cleared, CE-marked, and TGA-approved for point-of-care use has now been granted FDA 510(k) clearance for direct capillary... Read more

Immunology

view channel
Image: Immune cells present long before infection predict flu symptoms (Photo courtesy of Shutterstock.com)

Single Blood Draw to Detect Immune Cells Present Months before Flu Infection Can Predict Symptoms

For decades, if not centuries, scientists have struggled to solve the mystery of why certain individuals fall ill to infections while others remain unaffected. In an impressive development, researchers... Read more

Microbiology

view channel
Image: The rapid diagnostic test could pinpoint the correct antibiotic for infection treatment in under an hour (Photo courtesy of Microplate Dx)

Point-of-Care Device to Reduce Antibiotic Susceptibility Testing Time from Days to Minutes

Antimicrobial resistance (AMR) is a significant global health issue, currently leading to over 1.27 million deaths worldwide each year. By 2050, AMR could be causing up to 10 million deaths annually, surpassing... Read more

Pathology

view channel
Image: The Tasso+ device has received CE Mark certification (Photo courtesy of Tasso)

Groundbreaking Blood Lancing Device Obtains Microliter Capillary Whole Blood Samples Painlessly

A convenient, virtually pain-free blood lancet that collects whole liquid blood samples has received CE Mark designation, making the patient-centric, high-volume blood collection solution available in... Read more

Technology

view channel
Image: A new electrochemical device can quickly and inexpensively identify people at greatest risk for osteoporosis (Photo courtesy of ACS Central Science, 2023)

Electrochemical Device Identifies People at Higher Risk for Osteoporosis Using Single Blood Drop

With the global increase in life expectancy, the incidence of age-related conditions like osteoporosis is increasing. Osteoporosis, affecting around 200 million individuals worldwide, has a higher incidence... Read more

Industry

view channel
Image: The global fully automatic electrolyte analyzers market is projected to reach close to USD 0.77 billion by 2032 (Photo courtesy of 123RF)

Global Fully Automatic Electrolyte Analyzers Market Driven by Surge in Demand for Point-of-Care Testing

Fully automatic electrolyte analyzers can measure the levels of electrolytes in various bodily fluids like blood and plasma. Electrolytes are ions that have an electrical charge and are essential for multiple... Read more
Copyright © 2000-2023 Globetech Media. All rights reserved.