ALD is diagnosed through a blood test, which analyzes the amount of very long chain fatty acids, which are elevated in ALD.
An MRI diagnoses cerebral ALD.
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. Newborn screening for ALD first began in New York on December 30, 2013 thanks to the Seeger family‘s efforts via Aidan‘s Law. Please visit http://www.aldalliance.com to view the most recent ALD Newborn Screening Map and find out which states are currently screening its babies. If you live in a state which is not testing and would like to help advocate, please contact the ALD Alliance. If you live in a state that is not testing and would like to request a blood spot card for your baby to be screened, please contact the Kennedy Krieger Laboratory.