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The Power of Early Detection Autism Risk Testing

NeuroQure's ASD Insight™ autism risk screening test enables risk assessment in children as young as newborns. This is far earlier than traditional behavioral evaluations.

By identifying risk months or even years before behavioral signs emerge, patients have the potential to better manage autism spectrum disorders. In fact, early intervention leads to a formative increase in IQ, around ~10 points higher.

This makes ASD Insight™ an invaluable test when looking at ways to intervene sooner.

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The Accuracy - And Implications - Of ASD Insight™

How accurate is testing for autism risk?

While not an autism prenatal testing option, the ASD Insight™ test can be performed just days after birth, potentially enabling early intervention autism strategies and improving autism treatment efficacy.

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What Does Testing For Autism Risk Show?

Our ASD Insight™ test detects a cellular signal shared by individuals with:

High-potency single-gene (monogenic) ASD syndromes (e.g., Fragile X, Tuberous Sclerosis)

High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder

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It's crucial to understand that the ASD Insight™ test:

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Is the risk of autism detected in NeuroQure's ASD Insight™ test?

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Can ASD Insight™ be used as an autism prenatal test?

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How does ASD Insight™ differ from genetic screenings for autism?

Frequently Asked Questions

Yes. ASD Insight™ analyzes a critical node in the complex signaling pathway leading to ASD. This node is the activation of an organellar calcium ion channel, the IP3R, found in all cells. The test measures the channel behavior as it releases the calcium store to initiate a range of cellular behaviors implicated in autism including the fusion of neurotransmitter-containing vesicles into the synapse, activation of mitochondrial ATP synthesis, immune T & B cell responses, and gut motility & secretion. The ion channel is incapable of stable opening in ASD, so all of these cellular functions are significantly impaired. A low calcium signal below a calibrated threshold is associated with ASD. In ASD Insight™, signaling thresholds were set to minimize false positives. 75% of those individuals scoring in the ASD range on ADOS (Autism Diagnostic Observation Schedule) testing signal below the threshold. Specific behavioral features and severity cannot be predicted.

  1. 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.
  2. 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.
  3. 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.
  4. 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.

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Empower the Future with Cutting-Edge Science

Order your NeuroQure early detection autism risk test today.