How is ALD diagnosed?
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 www.aldalliance.org 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 that 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 (contact information below).
Who else in my family needs to be tested for ALD?
If a mother has ALD, there is a 50% chance of each of her other children also having ALD. This is crucial if the child is male and they should be tested immediately. If there are other female children, they can be tested when they are of childbearing age. Extended family – sisters, brothers, aunts, uncles, nieces, and nephews of the affected parent should also be tested for ALD. To determine if other children in the family are affected by or carriers of ALD disease, it is best to consult with your genetic counselor or your child’s primary care physician.
You can also request a blood spot card from the Kennedy Krieger Institute.
The requisition form may be downloaded here. Results are available within 7 to 10 days, unless there are special circumstances.
Contact information related to testing:
Kennedy Krieger Institute Genetics Laboratory - Peroxisomal Diseases Section
707 North Broadway
Baltimore, MD 21205 USA