FAQs

What is the NPDX AA test?

The NPDX AA test is a blood panel that measures metabolites in the blood of children with 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 test results will include a positive or negative result compared to data from the CAMP study as well as metabolic information regarding the specific differences between your patient’s metabolism and others’. You may use this information to determine the best treatment options, based on the child’s own metabolism.

The NPDX AA test can identify a subset of children with autism spectrum disorder (about 30%) who have a metabolic imbalance that is associated with ASD.

Who should get this test?

A child who exhibits delayed development that could be associated with autism spectrum disorder. The NPDX AA test is one tool that you can use for diagnosis and referral to a neurodevelopmental specialist for further evaluation.

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 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 AA test, therapeutic interventions could begin before a formal ASD diagnosis is conferred by a neurodevelopmental specialist.

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

How will this test help my patient receive an earlier autism spectrum disorder diagnosis?

ASD can be diagnosed through behavioral assessment in children as young as 24 months old. However, the average age of diagnosis in the United States is over 4 years old.1

NeuroPointDX has demonstrated through its clinical research study (the Children’s Autism Metabolome Project, or CAMP), which enrolled over 1,100 children, that children as young as 18 months old have a metabolic signature associated with an ASD diagnosis. This metabolic signature is identified through a blood plasma sample.

Our metabolic test, the NPDX AA test, can identify children with ASD up to 6 months earlier than behavioral testing and nearly 3 years earlier than the US average.

How do I order the test?

Ordering the NPDX AA test is simple. Complete the requisition form and refer your patient to the lab for a blood draw. If your facility does not have the capability to draw blood and store it at a minimum -70 C and ship on dry ice, your patient’s parents can work with NeuroPointDX, which will refer them to the closest facility in its early access program for the blood draw.

The parent will take the form to a separate blood draw appointment, where it will be shipped to NeuroPointDX along with the child’s blood plasma sample.

This is a fasting blood test; we recommend a first-of-the-morning blood draw. There are very specific requirements for sample collection and shipping. Please make sure your colleagues in the lab read these instructions.

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 you when results are ready.

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

If your patient receives a POSITIVE result on the test, it means that he or she has a metabolic imbalance that indicates an increased risk of an ASD diagnosis.

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

Use the results report to determine what to do next and discuss it with your patient’s family. Possible next steps include:

  • Work with your patient’s family to obtain a behavioral ASD diagnosis from a neurodevelopmental specialist. A positive result on the NPDX AA test could also justify beginning treatment before a behavioral diagnosis is obtained. Multiple studies have shown that earlier diagnosis leads better outcomes for children with ASD.2-4
  • Schedule other testing as you see fit, depending on the specific symptoms and needs of your patient.

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

If your patient receives a NEGATIVE result on the test, it means that he or she does not have a metabolic imbalance in the currently available NPDX AA panel 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 test can identify about 30% of children with ASD, which means that about 70% of those with autism spectrum disorder will receive a negative result on this test. NeuroPointDX is already working on validating its next panel through its clinical study, CAMP, thereby increasing that percentage.

How will I receive the results?

You will receive the test results by fax when they are ready, at which point you should share them with your patient’s family. Test results will be delivered within two weeks of NeuroPointDX’s receipt of both the blood plasma sample and the full payment.

How do I interpret the test results?

You can view an example results report here on the website, which breaks down each section of the report. Essentially, the report includes levels of 32 different amines as well as a positive or negative result for a metabolic imbalance associated with autism spectrum disorder. A positive result means that the child is more likely to receive an ASD diagnosis.

What do I do if I have questions about the results report?

Contact our customer care team at 833-434-6965 (toll-free) or 608-441-8187 to ask questions about your patient’s results on the NPDX AA test. You can also fill out a web form or email contact@neuropointdx.com, but please be sure not to include any patient health information in your message.

How do I contact NeuroPointDX?

There are several ways to reach out to NeuroPointDX with questions:

Mail

NeuroPointDX
c/o Stemina Biomarker Discovery
504 S Rosa Rd, Ste 150
Madison, WI 53719

Phone: 608-441-8187 or 833-434-6965 (toll-free)

Fax: 608-646-7739

Email: contact@neuropointdx.com

Web form

Where can I read more about the research that led to the development of this test?

The NPDX AA test is based on research studies conducted by NeuroPointDX, including the Children’s Autism Metabolome Project (CAMP), which enrolled over 1,100 children. The first paper published findings from the CAMP study—Amino Acid Dysregulation in Autism Spectrum Disorder: Potential biomarkers and targets for individual treatment—was published in Behavioral Psychiatry (September 2018). You can read the paper and view a poster based on the same research. For a comprehensive primer on the science behind the NPDX AA test, read Metabolomics 101.

Does the NPDX AA test have regulatory approval?

Yes, the NPDX AA test is a lab-developed test (LDT) that was validated in a CLIA-accredited lab. CLIA, or Clinical Laboratory Improvement Amendments, sets standards for laboratory tests performed on human specimens, like blood, tissue, or saliva. NeuroPointDX’s CLIA number is #52D2122420.

How is the NPDX AA test processed in NeuroPointDX’s lab?

NeuroPointDX’s NPDX AA test is a metabolic panel that measures the levels of 32 amines in the blood plasma using LC-MS/MS. Algorithmic analysis with very precise thresholds based on clinical data from the CAMP study of these amine levels is used to identify a number of metabolic subtypes (metabotypes) known to be associated with autism spectrum disorder (ASD) classification using the ADOS-2 as the reference method. The metabotypes were validated in a clinical study of children 18-48 months old.5 The results report includes both individual amine levels and an overall result (positive or negative).

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 comparing them to each other, we can provide an objective, biological indication of ASD. Read our Metabolomics 101 page for more information.

How does the NPDX AA test differ from a basic amino acid panel?

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 individuals 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 AA panel provided by NeuroPointDX.

Is the NPDX AA test covered by insurance?

Our test is not covered by insurance yet. Keep an eye on the website and NeuroPointDX’s social media accounts for insurance coverage announcements. However, the test is eligible for reimbursement through flexible savings accounts (FSA).

How much does the NPDX AA test cost?

The list price for the NPDX AA test is $1,000. There is a 25% discount for self-pay ($750); other discounts, including needs-based financial assistance, are also available. Contact customer care at 833-434-6965 (toll-free) or 608-441-8187 for more information.

Are there special instructions for sample preparation and shipping?

Yes, the instructions for preparing and shipping the blood plasma sample are very important. We outline the main points here on the website. The health care professional who draws your patient’s blood will need the complete instructions—you can find them here. The blood sample must be shipped overnight on dry ice.

Where do I ship a sample?

Your health care professional should ship the blood plasma sample—overnight and on dry ice—to:

NeuroPointDX CLIA Lab
c/o Stemina Biomarker Discovery
504 S Rosa Rd, Ste 150
Madison, WI 53719

Does NeuroPointDX pay for shipping?

Shipping costs are included in the price of the test. Your office does not have to pay to ship the sample to NeuroPointDX.

The lab can contact us at (608) 441-8187 to arrange for shipment or delivery by a medical courier to NeuroPointDX’s headquarters in Madison, Wisconsin.

References

  1. Centers for Disease Control and Prevention: Autism Spectrum Disorder (ASD)
  2. Fernell, Elisabeth, et al: Early diagnosis of autism and impact on prognosis: a narrative review. Clinical Epidemiology. 2013; 5: 33-43.
  3. Rogers, Sally et al: Evidence-based comprehensive treatments for early autism. Journal of Clinical Child & Adolescent Psychology. 2008; 8-38.
  1. Corsello, Christina: Early intervention in autism. Infants & Young Children. 2005; 18: 74-85.
  2. Smith, A., et al., Amino acid dysregulation metabotypes: potential biomarkers for diagnosis and individualized treatment for subtypes of autism spectrum disorder. 2018 Biological Psychiatry, doi: 10.1016/j.biopsych.2018.08.016.