What should I do if 3B-NEO results differ from the conventional newborn screening? 

• Discrepancies between the two tests can occur because they serve different purposes and provide different types of information. Conventional NBS assesses ‘current metabolic status,’ while 3B-NEO identifies ‘underlying genetic variants’ — it is important to interpret them as complementary rather than conflicting.

Interpretation by scenario is as follows:

• Conventional NBS Normal / 3B-NEO Variant Detected
  Current metabolic values are normal, but the child carries a genetic predisposition to potential future disease. Proactive monitoring and preventive measures should be considered. 
• Conventional NBS Abnormal / 3B-NEO No Variant Detected
  This may be due to a transient physiological fluctuation or a non-genetic cause.
  However, if symptoms persist or there is clinical suspicion, additional genetic testing should be considered.
• If a clinically significant variant is identified through 3B-NEO, the priority should be immediate clinical action rather than simply comparing the two tests.