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.

Simple Blood Test Rapidly Diagnoses Rare Neurometabolic Condition

By LabMedica International staff writers
Posted on 07 Jun 2023

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

Visit expo >

New

Gold Member

Human Chorionic Gonadotropin Test

hCG Quantitative - R012

Verification Panels for Assay Development & QC
Seroconversion Panels

New

Alpha-Fetoprotein Reagent

AFP Reagent Kit

New

Herpes Simplex Virus ELISA

HSV 2 IgG – ELISA

Latest Molecular Diagnostics News

Channels

Clinical Chemistry

view channel

Image: The GlycoLocate platform uses multi-omics and advanced computational biology algorithms to diagnose early-stage cancers (Photo courtesy of AOA Dx)

AI-Powered Blood Test Accurately Detects Ovarian Cancer

Ovarian cancer ranks as the fifth leading cause of cancer-related deaths in women, largely due to late-stage diagnoses. Although over 90% of women exhibit symptoms in Stage I, only 20% are diagnosed in... Read more

Image: The researchers detected genomic alterations from plasma cfDNA (Photo courtesy of 123RF)

Automated Decentralized cfDNA NGS Assay Identifies Alterations in Advanced Solid Tumors

Current circulating cell-free DNA (cfDNA) assays are typically centralized, requiring specialized handling and transportation of samples. Introducing a flexible, decentralized sequencing system at the... Read more

Image: Professor Nicole Strittmatter (left) and first author Wei Chen stand in front of the mass spectrometer with a tissue sample (Photo courtesy of Robert Reich/TUM)

Mass Spectrometry Detects Bacteria Without Time-Consuming Isolation and Multiplication

Speed and accuracy are essential when diagnosing diseases. Traditionally, diagnosing bacterial infections involves the labor-intensive process of isolating pathogens and cultivating bacterial cultures,... Read more

Image: A one-step confirmatory laboratory test could definitively diagnose active syphilis infection within 10 minutes (Photo courtesy of Adobe Stock)

First Comprehensive Syphilis Test to Definitively Diagnose Active Infection In 10 Minutes

In the United States, syphilis cases have surged by nearly 80% from 2018 to 2023, with 209,253 cases recorded in the most recent year of data. Syphilis, which can be transmitted sexually or from mother... Read more

Hematology

view channel

Image: The FINDER multifunctional testing platform can run multiple types of tests and deliver rapid results for near-patient use (Photo courtesy of Baebies)

First Point-of-Care Heparin Monitoring Test Provides Results in Under 15 Minutes

Heparin dosing requires careful management to avoid both bleeding and clotting complications. In high-risk situations like extracorporeal membrane oxygenation (ECMO), mortality rates can reach about 50%,... Read more

Image: The 3-parameter CCRS model was devised specifically for patients diagnosed with clonal cytopenia (Photo courtesy of 123RF)

New Scoring System Predicts Risk of Developing Cancer from Common Blood Disorder

Clonal cytopenia of undetermined significance (CCUS) is a blood disorder commonly found in older adults, characterized by mutations in blood cells and a low blood count, but without any obvious cause or... Read more

Image: The technology has the unique ability to detect challenging RhD variants that are typically excluded by other commercial tests (Photo courtesy of BillionToOne)

Non-Invasive Prenatal Test for Fetal RhD Status Demonstrates 100% Accuracy

In the United States, approximately 15% of pregnant individuals are RhD-negative. However, in about 40% of these cases, the fetus is also RhD-negative, making the administration of RhoGAM unnecessary.... Read more

Image: Leukocyte count represents an easily accessible, inexpensive clinical marker (Photo courtesy of 123RF)

WBC Count Could Predict Severity of COVID-19 Symptoms

The global health crisis caused by the SARS-CoV-2 virus continues to impact millions of people worldwide, with many experiencing persistent symptoms months after the initial diagnosis. Cognitive impairment... Read more

Immunology

view channel

Image: The cancer stem cell test can accurately choose more effective treatments (Photo courtesy of University of Cincinnati)

Stem Cell Test Predicts Treatment Outcome for Patients with Platinum-Resistant Ovarian Cancer

Epithelial ovarian cancer frequently responds to chemotherapy initially, but eventually, the tumor develops resistance to the therapy, leading to regrowth. This resistance is partially due to the activation... Read more

Machine Learning-Enabled Blood Test Predicts Immunotherapy Response in Lymphoma Patients

Chimeric antigen receptor (CAR) T-cell therapy has emerged as one of the most promising recent developments in the treatment of blood cancers. However, over half of non-Hodgkin lymphoma (NHL) patients... Read more

Post-Treatment Blood Test Could Inform Future Cancer Therapy Decisions

In the ongoing advancement of personalized medicine, a new study has provided evidence supporting the use of a tool that detects cancer-derived molecules in the blood of lung cancer patients years after... Read more

Cerebrospinal Fluid Test Predicts Dangerous Side Effect of Cancer Treatment

In recent years, cancer immunotherapy has emerged as a promising approach where the patient's immune system is harnessed to fight cancer. One form of immunotherapy, called CAR-T-cell therapy, involves... Read more

Microbiology

view channel

Image: The molecular stool test could improve detection of tuberculosis in adults with HIV (Photo courtesy of ISGlobal/George William Kasule et al, 2025)

Molecular Stool Test Shows Potential for Diagnosing TB in Adults with HIV

Tuberculosis (TB), caused by the bacterium Mycobacterium tuberculosis, led to 1.25 million deaths in 2023, with 13% of those occurring in people living with HIV. The current primary diagnostic method for... Read more

Image: CRP protein in cerebrospinal fluid was found to be a very reliable indicator of bacterial meningitis (Photo courtesy of 123RF)

New Test Diagnoses Bacterial Meningitis Quickly and Accurately

Bacterial meningitis is a potentially fatal condition, with one in six patients dying and half of the survivors experiencing lasting symptoms. Therefore, rapid diagnosis and treatment are critical.... Read more

Image: The lab-in-tube assay could improve TB diagnoses in rural or resource-limited areas (Photo courtesy of Kenny Lass/Tulane University)

Handheld Device Delivers Low-Cost TB Results in Less Than One Hour

Tuberculosis (TB) remains the deadliest infectious disease globally, affecting an estimated 10 million people annually. In 2021, about 4.2 million TB cases went undiagnosed or unreported, mainly due to... Read more

Image: The AI-based method can more accurately detect antibiotic resistance in deadly bacteria such as tuberculosis and staph (Photo courtesy of Adobe Stock)

New AI-Based Method Improves Diagnosis of Drug-Resistant Infections

Drug-resistant infections, particularly those caused by deadly bacteria like tuberculosis and staphylococcus, are rapidly emerging as a global health emergency. These infections are more difficult to treat,... Read more

Pathology

view channel

Groundbreaking Chest Pain Triage Algorithm to Transform Cardiac Care

Cardiovascular disease is responsible for a third of all deaths worldwide, and chest pain is the second most common reason for emergency department (ED) visits. With EDs often being some of the busiest... Read more

Image: Release of cell-free DNA and altered blood cells in patients with cancer (Photo courtesy of Carolyn Hruban/Johns Hopkins)

AI-Based Liquid Biopsy Approach to Revolutionize Brain Cancer Detection

Detecting brain cancers remains extremely challenging, with many patients only receiving a diagnosis at later stages after symptoms like headaches, seizures, or cognitive issues appear. Late-stage diagnoses... Read more

Image: The AI model accurately classifies pediatric sarcomas using digital pathology images alone (Photo courtesy of Shutterstock)

AI-Driven Analysis of Digital Pathology Images to Improve Pediatric Sarcoma Subtyping

Pediatric sarcomas are rare and diverse tumors that can develop in various types of soft tissue, such as muscle, tendons, fat, blood or lymphatic vessels, nerves, or the tissue surrounding joints.... Read more

Image: A typical histopathologic slide image of kidney cancer tissue (left) has significant intra-slide heterogeneity (Photo courtesy of UT Southwestern Medical Center)

AI-Based Model Predicts Kidney Cancer Therapy Response

Each year, nearly 435,000 individuals are diagnosed with clear cell renal cell carcinoma (ccRCC), making it the most prevalent subtype of kidney cancer. When the disease spreads, anti-angiogenic therapies... Read more

Technology

view channel

Advanced Predictive Algorithms Identify Patients Having Undiagnosed Cancer

Two newly developed advanced predictive algorithms leverage a person’s health conditions and basic blood test results to accurately predict the likelihood of having an undiagnosed cancer, including ch... Read more

Light Signature Algorithm to Enable Faster and More Precise Medical Diagnoses

Every material or molecule interacts with light in a unique way, creating a distinct pattern, much like a fingerprint. Optical spectroscopy, which involves shining a laser on a material and observing how... Read more

Image: The HIV-1 self-testing chip will be capable of selectively detecting HIV in whole blood samples (Photo courtesy of Shutterstock)

Disposable Microchip Technology Could Selectively Detect HIV in Whole Blood Samples

As of the end of 2023, approximately 40 million people globally were living with HIV, and around 630,000 individuals died from AIDS-related illnesses that same year. Despite a substantial decline in deaths... Read more

Image: Schematic illustration of the chip (Photo courtesy of Biosensors and Bioelectronics, DOI: https://doi.org/10.1016/j.bios.2025.117401)

Pain-On-A-Chip Microfluidic Device Determines Types of Chronic Pain from Blood Samples

Chronic pain is a widespread condition that remains difficult to manage, and existing clinical methods for its treatment rely largely on self-reporting, which can be subjective and especially problematic... Read more

Industry

view channel

$Image: The collaboration aims to leverage Oxford Nanopore\'s sequencing platform and Cepheid\'s GeneXpert system to advance the field of sequencing for infectious diseases (Photo courtesy of Cepheid)$

Cepheid and Oxford Nanopore Technologies Partner on Advancing Automated Sequencing-Based Solutions

Cepheid (Sunnyvale, CA, USA), a leading molecular diagnostics company, and Oxford Nanopore Technologies (Oxford, UK), the company behind a new generation of sequencing-based molecular analysis technologies,... Read more

Image: The Grifols-IBL partnership will initially focus on biomarker panels for neurological and oncological conditions (Photo courtesy of Grifols)

Grifols and Tecan’s IBL Collaborate on Advanced Biomarker Panels

Grifols (Barcelona, Spain), one of the world’s leading producers of plasma-derived medicines and innovative diagnostic solutions, is expanding its offer in clinical diagnostics through a strategic partnership... Read more

Image: BIOTIA-ID is an NGS platform that accurately and sensitively diagnoses infectious disease-causing pathogens (Photo courtesy of Adobe Stock)

New Collaboration to Advance Microbial Identification for Infectious Disease Diagnostics

With the rise of global pandemics, antimicrobial resistance, and emerging pathogens, healthcare systems worldwide are increasingly dependent on advanced diagnostic tools to guide clinical decisions.... Read more

Image: The Procollagen-III-peptide (PIIINP) ELISA kit (Photo courtesy of Cisbio Bioassays)

Tecan Acquires ELISA Immunoassay Assets from Revvity's Cisbio Bioassays

Tecan Group (Männedorf, Switzerland) has entered into an agreement to acquire certain assets relating to key ELISA immunoassay products from Cisbio Bioassays SAS (Codolet, France), a subsidiary of the... Read more