Newborn screening has identified many boys and families with variants of ABCD1 who have no family history of any ALD-related disease symptoms, even with older relatives with the same variant. These variants are reported as “variants of uncertain significance (VUS)” on genetic testing reports. The Grey Zone Project provides the confirmatory diagnostic testing needed to determine if the C26:0-LPC is in the normal range or in the established ALD range.
The Grey Zone
The Grey Zone Project focuses on families who have received positive newborn screening results and have been told that their child carries a variant of uncertain significance (VUS) in the ABCD1 gene. These families are in a diagnostic “grey zone” because it is unclear whether their child has ALD. The project provides validated, confirmatory C26:0-lysoPC testing to resolve this uncertainty.
This is an important project for our patients, families, and physicians. This is an international multi-site study. We would appreciate your help to make this successful.













