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LeukoSEQ: First-Line Whole Genome Sequencing in Leukodystrophies

LeukoSEQ: First-Line Whole Genome Sequencing in Leukodystrophies

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Description

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.

Eligibility and criteria


IRB Number:
16-013213
Clinical trial phase:
N/A
Official title:
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Smiling CHOP patient holding shopping bag

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