TREACHER COLLINS SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 8 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
Treacher Collins syndrome is a congenital craniofacial disorder characterized by malar and mandibular hypoplasia, lower eyelid coloboma, microtia, middle and inner ear abnormalities, and, in some cases, respiratory or hearing impairments. Its severity is variable, and it can be inherited in an autosomal dominant or recessive manner. It is caused by mutations in genes involved in ribosome biogenesis and branchial arch formation during embryonic development, affecting the migration and survival of neural crest cells. This panel allows for confirmation of the molecular diagnosis, differentiation from other craniofacial syndromes, and facilitates family genetic counseling. Genes analyzed: DHODH, EDNRA, EFTUD2, POLR1C, POLR1D, SF3B4, TCOF1, TXNL4A.
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