ALD is diagnosed through a blood test, which analyzes the amount of very long chain fatty acids (VLCFAs). Individuals with ALD have elevated VLCFAs.
Your baby may have been diagnosed via newborn screening. Although newborn screening for ALD is available in some states, it is not a diagnostic test. Newborn screening can, however, lead to a proper and early diagnosis upon confirmatory testing. Just after birth, a few drops of blood are taken from a baby’s heel and placed on a card that is sent to the state’s newborn screening lab. The results are then sent to the baby’s pediatrician and the hospital where they were born. Babies then need additional blood tests to confirm ALD, including a DNA test.