Clinical Science Supports Early Autism Risk Detection
The ASD Insight™ test represents a paradigm shift in autism spectrum disorder (ASD) detection, moving from behavioral observation to cellular biomarker identification. Built on eight years of research at UC Irvine's Center for Autism Research and Translation (CART), this breakthrough test identifies autism risk through analysis of intracellular calcium signaling pathways.
Molecular Basis of Autism Detection: IP₃ Receptor–Mediated Calcium Signaling
Current autism diagnosis relies on behavioral assessments that cannot be reliably administered before 18–24 months of age, with a median diagnosis occurring at 5 years. The ASD Insight™ test detects disrupted calcium homeostasis at the cellular level, specifically targeting inositol trisphosphate receptor (IP₃R) dysfunction in the endoplasmic reticulum. This organelle channelopathy manifests as defective calcium release from intracellular stores, creating a detectable biomarker present from birth across multiple autism etiologies, including monogenic syndromes (Fragile X, Tuberous Sclerosis) and idiopathic autism spectrum disorder.
Diagnostic Accuracy & Sensitivity Profile
The ASD Insight™ test demonstrates 75% sensitivity in detecting autism risk with specificity optimized to minimize false positives. The performance profile identifies approximately 3 out of 4 children who will develop autism spectrum disorder, providing clinically actionable information years before behavioral symptoms manifest.
Read Our Key Studies
Autism Diagnosis at Birth via Functional Analysis of IP Receptor Ca2+ Signaling Iin Fibroblasts
Discover the latest research from J. Gargus, D. Justus, JS. Dolinsky, J. Limon, E. Chao, and I. Smith of NeuroQure. We aimed to develop a Ca2+ signaling assay that will be adopted as an ASD risk detection test.
High-Throughput Screen Detects Calcium Signaling Dysfunction in Typical Sporadic ASD
A groundbreaking study reveals that individuals with ASD exhibit distinct metabolic profiles. Using advanced metabolomics analysis, researchers identified significant differences in key metabolic pathways, such as amino acid and lipid metabolism. These findings pave the way for innovative diagnostic tools and therapeutic approaches, offering new insights into the biological underpinnings of ASD.
Why Test For ASD Risk?
Know Earlier
By screening at birth, families are able to plan early intervention, enabling access to developmental therapies during critical neuroplasticity windows when intervention efficacy is maximized.
Act Sooner
Published research demonstrates that early intervention beginning before age 2 results in average IQ improvements of 17+ points compared to standard care initiated at typical diagnosis age.
The Power of Early Autism Intervention
The average age of ASD diagnosis is five years old. Early intervention leads to...
41% in life-long services cost savings
Apply for qualifying services with traditionally long wait times
Plan ahead for living arrangements, schools, insurance, and more
- General information: Autism spectrum disorder (ASD) had 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: ASD Insight™ was developed and its performance characteristics were determined by NeuroQure, Inc, a clinical laboratory. 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.