LeukoSEQ: First-Line Whole Genome Sequencing in Leukodystrophies

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While recent research has demonstrated that whole genome sequencing is a powerful first-line diagnostic tool, important questions remain around its long-term impact on downstream clinical management approaches. The investigators hope to address these questions by way of chart review and survey administration in a small population of suspected leukodystrophy patients who receive whole genome sequencing as part of their clinical care.

Who Do I Contact?

If you are interested in participating in the study or want to learn more please contact our study team at sherbinio [at] chop.edu or 215-590-2575.

Eligibility & Criteria

IRB #:
16-013213
Official Title:
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Study Phase:
Not Applicable
Eligible Age Range:
0 - 18 Years
Gender:
All
Study Categories:
Downloadable Resources: