Waardenburg Syndrome (WS) is a genetic disorder characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, blue eyes (heterochromia irides), and sensorineural hearing loss. It also presents with other clinical features involving musculoskeletal abnormalities, gastrointestinal malformations and neurological defects. WS is considered a defect in the melanocyte and neural crest development, where a complex interconnecting regulatory network of genes work in synergism for an appropriate development of melanocytes. It is typically inherited in an autosomal dominant pattern.
The Igenomix Waardenburg Syndrome Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of hearing loss ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
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