Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional
Official Title: LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Brief Summary: The purpose of this study is to establish the ability of Next-Generation Sequencing (NGS) technologies to provide a diagnosis in a group of participants with suspected leukodystrophy as determined by clinical symptoms, including MRI imaging, but without a specific genetic diagnosis. Cost-effectiveness and clinical utility of whole genome sequencing will also be investigated as part of the study.