NeuroPointDx, Madison, Wis, a division of Stemina Biomarker Discovery, recently announced the commercial launch of its NPDX AA test, which identifies metabolic subtypes associated with autism spectrum disorder (ASD).

The blood plasma-based test, provided through NeuroPointDx’s CLIA-certified laboratory, may be used to screen children as young as 18 months. Children who receive a positive result on the test should be prioritized for further clinical evaluation by a neurodevelopmental specialist. The NPDX AA test also provides metabolic information that may be used by clinicians and physicians to inform a more precise treatment strategy for a child diagnosed with ASD.

The test detects amine imbalances in the blood plasma of children with very precise thresholds that were identified and validated based on patient samples from the children’s autism metabolome project (CAMP), a 1,100-subject study focused on the metabolism of children with ASD. These imbalances, detected in about 30% of children with ASD, are not identified by other currently available metabolic tests.

The branched-chain amino acid metabotypes (metabolic subtypes) identified by the CAMP study account for several of the metabotypes included in the NPDX AA test.


Elizabeth Donley, NeuroPointDx.

“Clinicians need better tools to diagnose children with ASD as early in development as possible,” says Elizabeth Donley, president and CEO of NeuroPointDx. “Research has indicated that positive outcomes—such as improvement in cognitive and adaptive skills, and reduction in ASD symptoms—are more likely in children who begin treatment before age three.

“This test provides specific information about the precise cutoffs for each metabolite measured, based on data from the large, rigorous CAMP study,” adds Donley. “We have taken great care to identify these thresholds for optimal accuracy and clinical utility, using data from the CAMP study. The results provide a biological basis for further evaluation by a neurodevelopmental specialist. Moreover, in conjunction with advice from a physician, they may point to a treatment strategy for some children.”


Bob Burrier, NeuroPointDx.

“We are continuing to mine data from the CAMP study to identify and validate additional metabolic subtypes in children with ASD,” says Bob Burrier, chief operating officer and vice president for research and development at NeuroPointDx. “Our aim is to further build on the utility of this test to identify a greater percentage of children with additional metabolic subtypes. The metabolic biomarkers we have identified will serve as targets for new therapies ranging from pharmaceuticals to dietary supplements, bringing precision medicine to the diagnosis and treatment of this neurodevelopmental disorder.”

NeuroPointDx plans to bring a second test panel to market in 2019. The company is also seeking to identify potential treatments for ASD based on differences in the metabolism of these children.

Test Availability

The NPDX AA test must be ordered by a physician, and requires a fasting blood sample, which can be taken by a phlebotomy lab. The lab then ships the blood plasma sample to NeuroPointDx’s CLIA-certified laboratory for testing. Test results are provided to the physician within 2 weeks. The NPDX AA test is recommended for a child who has:

  • Failed screening for developmental milestones indicating risk for ASD (eg, M-CHAT, ASQ-3, PEDS, STAT).
  • A family history, such as a sibling, diagnosed with ASD.
  • An existing ASD diagnosis and for whom additional metabolic information may provide insight into the child’s condition and therapy.

The NPDX AA test is not currently covered by insurance. However, the test does qualify for payment or reimbursement under healthcare flexible spending accounts (FSA). An FSA credit card can be used to pay for the test online or by phone.

For more information, visit NeuroPointDx.


  1. Smith AM, King JJ, West PR, et al. Amino acid dysregulation metabotypes: potential biomarkers for diagnosis and individualized treatment for subtypes of autism spectrum disorder. Biol Psychiatry. Epub ahead of print, September 6, 2018; doi: 10.1016/j.biopsych.2018.08.016.

Featured image: Patient samples for analysis by mass spectrometry at NeuroPointDx.