Parent FAQs

What is the NPDX ASD test?

The NeuroPointDX Autism Spectrum Disorder (NPDX ASD) test is a blood test for children with certain differences in metabolism and compares them to specific metabolic imbalances that are associated with autism spectrum disorder (ASD). When one or more of these imbalances is detected, there is an increased chance the child will receive an ASD diagnosis.

The NPDX ASD test will include a positive or negative result compared to data from the Children’s Autism Metabolome Project (CAMP) I study, as well as metabolic information regarding the specific differences between your child’s metabolism and others. Your child’s doctor may use this information to determine the best treatment options, based on the child’s own metabolism.

The NPDX ASD test can identify a subset of children with autism spectrum disorder (about 72%) who have a metabolic imbalance that is associated with autism spectrum disorder.

Who should get this test?

A child who exhibits delayed development that could be associated with autism spectrum disorder (ASD). The NPDX ASD test is one tool that physicians and clinicians can use as a first check for diagnosis and referral.
The test is appropriate for a child who:

  • Has failed screening for developmental milestones indicating risk for ASD (e.g., M-CHAT*, ASQ-3, PEDS, STAT, etc.)
  • Has a family history such as a sibling diagnosed with ASD
  • Has an ASD diagnosis for whom additional metabolic information may provide insight into the child’s condition and therapy

The test panel can also be useful for families on a waiting list to see a specialist. If a child receives a positive result on the NPDX ASD test, therapeutic interventions could begin before a formal autism diagnosis is conferred by a neurodevelopmental specialist.

*Ask your pediatrician about taking the M-CHAT.

Please note: The clinical study used to validate this test was performed using fasting, blood plasma samples from patients 18-48 months old. Test performance has not been evaluated in patients younger than 18 months or older than 48 months of age.

Why use the NPDX ASD test?

  • Research shows that the earlier a child receives an ASD diagnosis, the better. Treatment can begin sooner, leading to better outcomes for the child. NeuroPointDX’s test has been developed for children as young as 18 months of age.
  • NeuroPointDX’s NPDX ASD test is an additional test that parents and physicians can use to reach a diagnosis sooner. The test can be used in combination with genetic tests and evaluation for disorders like Fragile X or Attention Deficit Disorder that can be associated with an increased rate of ASD diagnosis to build a more complete picture of the child’s autism profile and how it should be treated.
  • The NPDX ASD test provides an objective, biological endpoint to support diagnosis and more precise treatment.

Is the NPDX ASD test available in every state?

At this time, the NPDX ASD test is available in 49 states. Currently, we cannot accept blood plasma samples from New York.

How do I prepare my child for the test?

The NPDX ASD test requires a fasting blood draw. Make sure your child has not had anything to eat or drink except water for at least 12 hours prior to the blood draw. If your child has not fasted, NeuroPointDX will not be able to accurately process the sample.

We suggest these tips:

  • Schedule a blood draw first thing in the morning before breakfast.
  • Bring the child’s favorite snack or treat to eat as soon as the blood draw is completed.
  • Allow the child to participate in a chosen activity after the blood draw.

Learn how to prepare for our autism test.

What if the physician or clinician suggests that we “wait and see” for 6-12+ months to see if my child catches up to peers?

Children develop skills like walking and talking at different times, so some physicians or clinicians may suggest a “wait and see” approach when a child shows delays.

Why this approach isn’t the best choice for your child:

  • An earlier diagnosis and treatment is important for a child’s short- and long-term development.
  • “Wait and see” can be frustrating for parents. It’s tough to wait it out when your child needs help. The NPDX ASD test offers an opportunity to identify and refer children at risk of an ASD diagnosis earlier so they can receive treatment sooner. Our test is an alternative to “wait and see.” If the test comes back positive, a physician or clinician should make the referral to a neurodevelopmental specialist with sound scientific support, based on clinical study that further testing could benefit the child — and should be performed sooner than later.

When will test results be available?

Test results will be available within two weeks of NeuroPointDX’s receipt of both the blood plasma sample and full payment. We will fax the report to your doctor when results are ready.

What does it mean if my child gets a positive result on the test?

If your child receives a POSITIVE result on the test, it means that he or she has a metabolic imbalance that indicates an increased risk of autism spectrum disorder (ASD) diagnosis.  This result can be used to prioritize the child for a behavioral assessment.  The specific metabolic subtype of dysregulation may inform more precise treatment or intervention with specific, low-risk supplements.

What do I do if my child gets a positive result on the test?

Work with your child’s doctor to determine next steps. Some possibilities include:
• Work with your child’s physician or clinician to obtain a behavioral ASD diagnosis from a specialist. A positive result on the NPDX ASD test could also justify beginning treatment before a behavioral diagnosis is obtained. Multiple studies have shown that earlier diagnosis can mean better outcomes for children with ASD.(1-3)
• Schedule other testing, as suggested by the doctor, depending on the specific symptoms and needs of your child.
• Seek out resources in the larger autism community to help yourself and your child learn more. Understand that you are not alone. There are resources available to improve outcomes for your child and the NPDX ASD test is the first test to both identify children earlier and offer insight into more precise treatment.

What does it mean if my child gets a negative result on the test?

If your child receives a NEGATIVE result on the test, it means that he or she does not have a metabolic imbalance in the currently available NPDX ASD panels that NeuroPointDX has identified as being indicative of autism spectrum disorder in its clinical study, CAMP. A negative result does not mean that the child won’t be diagnosed with ASD.

NeuroPointDX’s NPDX ASD test can identify about 72% of children with ASD, which means that about 28% of those with autism spectrum disorder will receive a negative result on this test but those that receive a positive diagnosis, will gain insight into the best potential treatment for their particular metabolic dysregulation.

How will I receive the results?

Your child’s doctor will receive the test results when they are ready. Test results will be available within two weeks of NeuroPointDX’s receipt of both the blood plasma sample and full payment. To get a copy for your records, contact us to request a form and additional information about our policy. Talk to your child’s doctor to understand the results report.

Why does NeuroPointDX use metabolism, not genetics, to identify children with a high risk of being diagnosed with autism?

Autism spectrum disorder (ASD) is complex. The presence and severity of symptoms vary widely from one individual to the next. Given ASD’s complexity, it’s not surprising that no single cause has been identified. Current research indicates that genetic, biological, and environmental factors may all play a role in causing ASD.

Even when autism spectrum disorder appears to be caused by genetics (a child has a parent with ASD, for example), there may be several different genes involved. The exact genes and the complex interactions between them are not fully understood.

NeuroPointDX uses the science of metabolomics to identify people with ASD. Metabolomics can make this identification, regardless of what causes autism (or that particular child’s autism). Through our extensive clinical study, the Children’s Autism Metabolome Project (CAMP), we identified several metabolic signatures linked to ASD. These metabolic signatures show that certain amines are out of balance with one another.

NeuroPointDX can identify a subset of children who are likely to receive an ASD diagnosis based on their metabolic signature. By measuring the levels of certain amines and metabolites, and comparing them to each other, we can provide an objective, biological indication of ASD. Read our Metabolomics 101 page for more information.

How is the NPDX ASD test different from amino acid tests?

Our metabolic test measures amine levels, so you may wonder if a basic amino acid test is sufficient. An amino acid test does provide some information, but it doesn’t tell the whole story.

The NeuroPointDX team has developed algorithms with very precise thresholds set based on clinical data from the CAMP study that evaluate the amines in relation to one another, resulting in identification of a metabolic imbalance.

Levels of individual amino acids provided in the standard range delivered by major diagnostic companies are not capable of identifying a higher risk of ASD. They lack the clinical study data and precision provided by NeuroPointDX through the CAMP study. This information is only available in the NPDX ASD panel provided by NeuroPointDX.

References

  1. Smith AM, Donley ELR, Ney DM, Amaral DG, Burrier RE, Natowicz, MR, et al. (2023): Metabolomic Biomarkers in Autism: Identification of Complex Dysregulations of Cellular Bioenergetics, Front. Psychiatry, Volume 14:1249578, doi.org/10.3389/fpsyt.2023.1249578
  2. Smith, et al. Amino acid dysregulation metabotypes: Potential biomarkers for diagnosis and individualized treatment for subtypes of autism spectrum disorder. Biological Psychiatry, 2018; 85(4):345-354.
  3. Smith, et al. A metabolomics approach to screening for autism risk in the Children’s Autism Metabolome Project. Autism Research, 2020; 13(8):1270-1285.
  1. Fernell, et al. Early diagnosis of autism and impact on prognosis: a narrative review. Clinical Epidemiology, 2013; 5: 33-43.
  2. Rogers, et al. Evidence-based comprehensive treatments for early autism. Journal of Clinical Child and Adolescent Psychology, 2008; 8-38.
  3. Corsello, Christina: Early intervention in autism. Infants and Young Children, 2005: 18: 74-85.