Information for Clinicians

*** Please Note: The expanded Newborn Screen test may detect or 'red flag' several FODs, as well as many other metabolic disorders ~ however, the enbs is not 100% definitive and it is DIFFERENT than the Diagnostic acylcarnitine profile test that is often used to specifically diagnose FODs (*see article below - other diagnostic tests are used as well to give a more complete picture, since the profile can also come back inconclusive or normal, especially if the blood was taken when the child/adult was well).

There is also the possiblity of false positives and false negatives with the newborn screen test. It is very important, especially after a false negative, if your child experiences symptoms such as lethargy, low muscle tone, low blood sugars, chronic illnesses, seizures etc, that you INSIST on pursuing Diagnostic testing, and not just another newborn screen test. Your Dr can inquire about what other tests might be suggested (ie., acylcarnitine profile, plasma carnitine levels, urine organic acids, DNA testing) and types of specimens needed (blood or urine, skin or muscle biopsy, amniocytes, postmortem tissues) to further assist in the diagnostic evaluation of FODs for children and adults.