Whether you’ve just received a positive test for ALD through newborn screening, or are looking to learn more about your family genetic history, you’ll find information about who should be tested for Adrenoleukodystrophy below.
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.
Which States Test for ALD in Newborn Screening Panels?
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.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 (contact information below).
The ALD Alliance (formerly Aidan Jack Seeger Foundation) needs your help.
Sign the petition to “Save Our Babies – Vote Yes on Aidan’s Law: Eradication of Death by Zip Code”
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
Phone: +1.443.923.2760
Fax: +1.443.923.2755
Through ALD newborn
screening, affected
children have the
opportunity to benefit
from lifesaving
treatment.
an Adrenoleukodystrophy Overview
What is ALD?
Adrenoleukodystrophy, or ALD, is a deadly genetic disease that affects 1 in 17,000 people. As it is an X-linked genetic disease, which means, it most severely affects boys and men.
How do you get ALD?
ALD disease is a genetic, or inherited, disorder. If a mother is a carrier of ALD, there is a 50% chance of passing this on to her children. If a father is a carrier of ALD, he will pass this on to his daughter.
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. Genetic testing will confirm the diagnosis. An MRI diagnoses cerebral ALD.
