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Beckwith-Wiedemann Syndrome (KCNQ1OT1) Deletion/Duplication Analysis
This analysis assists in the accurate molecular diagnosis of Beckwith-Wiedemann syndrome by examining genetic changes, contributing to early and integrated healthcare for the affected child.
A specialized laboratory test to detect deletion or duplication mutations in the KCNQ1OT1 gene. It helps clinicians confirm clinical diagnosis and identify health risks associated with overgrowth syndromes.
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