NeuroQure

Identify ASD Early Risk Within Weeks of Birth – Not Years

Our autism risk test, ASD Insight™, is designed to provide assessment of early autism risk detection by analyzing a simple skin sample collected from an individual of any age.

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Learn more about ASD Insight™

Hear how the test can give your family options and peace of mind.

The Science Behind The Test

The first-of-its-kind ASD Insight™ test detects a biological marker in skin cells that identifies a marker related to calcium signaling that is altered in signal processing in the autism spectrum disorder brain.

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How the ASD Insight™ Early Autism Risk Detection Test Works

  1. Tissue sample from skin punch biopsy or discarded foreskin is collected.

  2. The sample is sent to NeuroQure's lab for processing.

  3. The sample is analyzed using our patented technique.

  4. Results are provided within weeks to the online portal.

What To Know About ASD Insight™

  • Earliest Availability: Available from birth onward, well before behavioral signs of autism are detected on diagnostics assessments, which are not available until 18-24 months.

  • Minimally Invasive: Uses a small sample of skin from a punch biopsy or leftover foreskin from circumcision.

  • Rapid Results: Get answers within weeks, not years.

  • Proprietary Methodology: First-of-its-kind test.

  • Expert Backed: Clinically approved and developed by world known John J. Gargus, MD, PhD, our Co-Founder and Chief Scientific Officer.

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The Importance of Early Autism Detection

Early detection of autism spectrum disorder (ASD) has been proven to significantly improve outcomes for children compared to those diagnosed later in childhood. By identifying risk factors early, families can access resources and interventions that support development and learning.

Studies have shown that children diagnosed at the earliest possible age (2 years) versus those diagnosed at the current average age (5 years) can see a noticeable IQ improvement by 17 points.

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Frequently Asked Questions

What is the NeuroQure ASD Insight™ test?
ASD Insight™ is a test that can detect risk for autism in approximately 75% of people who will eventually be diagnosed with autism spectrum disorder (ASD). This test is performed on cultured fibroblasts obtained from a skin sample. Scientific research has demonstrated that calcium signaling in fibroblasts reflect the signaling patterns in brain neurons, and specific patterns of calcium signaling in fibroblasts have been reliably associated with autism spectrum disorder (ASD) diagnosed by the Autism Diagnostic Observation Schedule (ADOS).
How does the NeuroQure ASD Insight™ test work?
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. Specific behavioral features and severity cannot be predicted.
Is this a blood test for the autism gene?

No. ASD Insight™ is not a blood test or genetic test. While genetic tests analyze DNA and other genetic material, ASD Insight™ tests calcium signaling. Low levels of signaling in a specific cellular pathway are associated with risk for ASD. This result has been consistent in people with idiopathic, polygenic and monogenic ASD.

Genetic tests analyze genetic material, most commonly DNA, for alterations associated with specific genetic conditions. Autism has been associated with over 185 moderate to highly penetrant, and nearly 1000 low to moderately penetrant genetic findings. Therefore, genetic testing is often suggested in evaluating an individual with autism with tests for monogenic conditions such as fragile X syndrome testing or for broad reach test such as a chromosomal microarray and/or whole exome or genome sequencing. However, only 10-40% of individuals with ASD have an underlying genetic cause that can be detected.

Who can take the NeuroQure ASD Insight™ risk detection test?
The NeuroQure ASD Insight™ risk detection test is recommended for patients of any age but may be most beneficial for birth through preschool ages when the ADOS assessment is more challenging or unavailable to administer. ASD Insight™ can be performed on cultured skin fibroblasts from a skin biopsy or discarded foreskin after circumcision. The NeuroQure ASD Insight™ early risk detection test is intended to be used in addition to, and not replace, ASD diagnostic tests your healthcare provider recommends.
What does testing for autism risk show?
In a landmark study published in 2017, scientists discovered that calcium signaling in skin cells had a pattern specific to individuals with ASD. The study defined positive and negative patients based on results from the gold standard test, research-grade Autism Diagnostic Observation Schedule (ADOS). Signals in positive individuals were significantly and reproducibly different than those in patients scored as neurotypical by ADOS. This notable difference is the scientific basis for the NeuroQure test available today.
How does the NeuroQure ASD Insight™ test assess ASD risk?
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 (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.
How can I order the NeuroQure ASD Insight™ risk detection test?
Your own healthcare provider can order the test, or you can use our website to connect with a qualified provider through our partner, SteadyMD, who will review your information and order the test if it’s appropriate. To request a test through our website, please visit https://www.neuroqure.com/order.
Laboratory / Test Information
  1. 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.
  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: 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.
Relevant Literature
  1. Schmunk et al. 2015. Transl Psychiatry.
  2. Schmunk et al. 2017. Sci Rep.
  3. Nguyen et al. 2018. Biochim Biophys Acta Mol Cell Res.
  4. Cardenas et al. 2010. Cell.
  5. Gargus. 2009. Ann N Y Acad Sci.
  6. Filipek et al. 2004. J Autism Dev Disord.
  7. Siddiqui et al. 2023. eLife.
  8. Siddiqui et al. 2016. Autism Open Access.
  9. Makio et al. 2024. Cell Calcium.
  10. Swain et al. 2024.

Empower Early Risk Detection, Transform Lives

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