What can the test Detect?
Through a skin sample, the test looks for a signal associated with depressed calcium signaling through a specific ion channel receptor, the IP3R, from an intracellular calcium store, the ER, that plays an important role in neurotransmitter release, mitochondrial energy and reactive oxygen (ROS) production .
In developing the test, we found that we could capture a specific macroscopic cellular signal that was caused by this IP3R channel and showed the signaling deficit in ASD samples.
To minimize any false positive diagnosis the test is conservatively interpreted using <40% of the control level as “high risk of ASD”, recognizing that now 75% of those who would test ADOS-positive are recognized, but that some who would have ADOS scores diagnosing ASD signaling above the threshold in the neurotypical range.
The calcium signaling in the sampled skin fibroblasts are compared to calcium signaling in neurotypical individuals and scored compared testing in the ASD range by research grade ADOS testing. If an autism signal is detected, results from the test predict signal to help your healthcare provider determine next steps.
The early Autism detection test is a screening test and does not diagnose Autism. Diagnostic testing is needed to confirm Autism. The early Autism detection test is not a genetic risk assessment and it doesn’t determine your future risk of developing Autism.
Understanding
Your Results
There are two possible results:
- No Autism Signal Detected
- Autism Signal Detected
The NQ Early Autism detection test looks for an Autism cellular signal shared by those with a high potency single-gene (monogenic) ASD syndrome, such as Fragile X or Tuberous Sclerosis as well as those with the far more common non-syndromic polygenic forms of ASD where many components of the genome and environment all contribute to the inborn risk.
The early Autism detection test does not detect a signal for all types of Autism and not all types of Autism can be detected in the skin. False positive and false negative results do occur.