LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool
The goal of this study is to investigate whether whole genome sequencing results in a more rapid diagnosis in individuals suspected of having a genetic disorder of the white matter of the brain.
Eligible candidates must not have received extensive genetic testing – whole exome sequencing or whole genome sequencing – prior to enrollment, must be under 18 years of age, and must be able to receive medical care in the United States. Additionally, both biological parents must be available to provide reference blood samples.
If you or your child has a suspected diagnosis of leukodystrophy, you may be eligible to participate in this study. If you are interested in learning more about or participating in this study, we invite you to submit our referral survey.
You may also visit the official ClinicalTrials.gov listing for more information about the study.