Diagnosis and Testing

How do I get tested for X-linked adrenoleukodystrophy?

The first diagnostic test for adrenoleukodystrophy is measuring very long chain fatty acids (VLCFA) in the blood. This is typically diagnostic for the condition. DNA testing of the ABCD1 gene may also be used to identify the genetic change in the individual. Testing is available at several different labs in the United States. A list of these labs can be found at the Genetic Testing Registry.

Steinberg, S., Moser, A., Raymond, G. X-Linked Adrenoleukodystrophy. Gene Reviews. Online database. Updated April 2015.

X-Linked Adrenoleukodystrophy. Genetics Home Reference. Updated July 2013.

Genetic Testing Registry: Adrenoleukodystrophy.[DISCUI]&condition=C0162309&test_type=Clinical&certificate=CLIA%20Certified&display_string=Adrenoleukodystrophy

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