WAARDENBURG SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) – 8 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Waardenburg Syndrome panel analyzes eight genes associated with this genetic neural and pigmentary developmental disorder, characterized by congenital sensorineural hearing loss, pigmentation abnormalities of the hair, skin, and eyes, and, in some cases, facial or intestinal anomalies (aganglionic megacolon). Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, it identifies mutations that affect the migration and differentiation of neural crest cells, as well as genes involved in melanogenesis and cochlear development. Examples of included genes include: PAX3, SOX10, MITF, EDNRB, EDN3, KIT, SNAI2, and TYR.
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