Unveiling ASD Early Risk Identification Within Days of Birth
NeuroQure's ASD Insight early autism risk detection test is the first of its kind. The test uses a minimally invasive skin sample to predict the risk for autism in approximately 75% of people who will go on to develop autism.
That means simple identification of risk years earlier than traditional methods, maximizing the chance to engage with therapies and intervening as soon as possible before many developmental milestones have passed.
Transforming Autism Risk Detection for Families and Physicians
NeuroQure is bridging the gap and paving the way for improved outcomes and personalized care in autism spectrum disorders at an earlier age than ever.
By bridging the gap between markers and early intervention, NeuroQure is paving the way for improved outcomes and personalized care in autism spectrum disorders.
How the ASD Insight Early Autism Detection Test Works
Tissue sample or discarded foreskin
Tissue sent to NeuroQure's Lab
Cultured tissues analyzed using patented technique
Results delivered in weeks
Key Features of NeuroQure’s ASD Insight Test
Earliest Detection: Identify autism risk as soon as days after birth.
High Accuracy: Up to 75% likelihood in detecting autism risk.
Non-Invasive: Uses a minimally invasive skin biopsy.
Rapid Results: Get answers within days, not years.
Actionable Insights: Gain insights to tailor intervention plans.
The Science Behind NeuroQure's ASD Insight Test
Our first-of-its-kind early ASD Insight autism risk detection test uses a small skin sample to predict the risk of autism with up to 75% accuracy.
By providing the opportunity to reduce time to diagnosis, NeuroQure enables parents and healthcare providers to implement safe, tailored infant stimulation treatment plans promptly, potentially altering the course of a child's development for the better.
Frequently Asked Questions
- General information: Autism spectrum disorder (ASD) has no defined biomarkers for diagnostics or novel drug discovery. A major cluster of ASD-associated loci encode calcium signaling proteins. Functional measurement of these signals in fibroblasts shows altered intracellular Ca2+ release in monogenic syndromes associated with ASD (FMR1, TSC1, TSC2, etc.), as well as sporadic ASD. Ca2+ channels in these patients demonstrate a reduced mean open-time and therefore low flux, while other measurable parameters, such as channel abundance, selectivity, conductance, and latency, are unchanged. This result is similar to single-channel kinetic changes seen in genetic Channelopathies.
- Methodology: The skin biopsy is processed using enzymatic dissociation and fibroblasts are cultured in standard medium. Cultured cells are plated in triplicate along with controls and then subjected to stimulation of Ca2+ signaling with ATP, ionomycin and buffer. All triplicates are averaged and normalized to a baseline based on triplicate controls included on each plate. The Ca2+ signal and closure of the calcium channel is calculated based on a previously published algorithm (Schmunk et al.) and reported as detected or not detected based on the rate of calcium flux on closure as compared to controls. The reference range is not detected based on the measured calcium flux, which is physiologic and in the range of that seen in neurotypical controls.
- References: Schmunk G, Nguyen RL, Ferguson DL, Kumar K, Parker I, Gargus JJ. High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder. Sci Rep. 2017;7:40740 Nguyen RL, Medvedeva YV, Ayyagari TE, Schmunk G, Gargus JJ. Intracellular calcium dysregulation in autism spectrum disorder: An analysis of converging organelle signaling pathways. Biochim Biophys Acta Mol Cell Res. 2018;1865(11 Pt B):1718-1732.Schmunk G, Boubion BJ, Smith IF, Parker I, Gargus JJ. Shared functional defect in IP3R-mediated calcium signaling in diverse monogenic autism syndromes. Transl Psychiatry. 2015;5(9):e643.
- Disclaimer: The ASD Insight Test was developed and its performance characteristics were determined by Exceltox Laboratories, LLC 15375, Barranca Pkwy, E104 Irvine CA 92618. It has not been cleared or approved by the US Food and Drug Administration. This test is used for clinical purposes. It should not be regarded as investigational or for research. Exceltox Labs is accredited by the College of American Pathologists (CAP) under the Clinical Laboratory Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing.
Empower Early Risk Detection, Transform Lives
Get started with NeuroQure's ASD Insight autism risk test today.