Aidan

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.

ALD Newborn Screening is currently active in 16 states: New York, Connecticut, California, Minnesota, Pennsylvania, Washington, Tennessee, Florida, Nebraska, Illinois, Texas, Rhode Island, Vermont, Kentucky, Washington, D.C., Michigan, and Delaware. More states are slated to come on board in the coming year. If you currently live in a state which is not testing or have extended family living in a state that is not testing, please contact the Kennedy Krieger Laboratory, listed above, for a blood spot card.

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 at: http://genetics.kennedykrieger.org/forms/pero1.pdf. 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

Phone: +1.443.923.2760

Fax: +1.443.923.2755