TRICH-HEPATO-ENTERIC SYNDROME (SYNDROME DIARRHEA): CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Trichohepatoenteric Syndrome panel analyzes two genes associated with a rare congenital disorder characterized by intractable diarrhea with neonatal onset, fine and brittle hair, distinctive facial features, immunodeficiency, and variable liver involvement. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, it identifies mutations in genes of the SKI-exosome complex, which are essential for the degradation and regulation of cellular RNA. Analysis of these genes confirms the diagnosis and facilitates clinical monitoring and family genetic counseling. Genes included: SKIV2L (SKIC2), TTC37 (SKIC3).
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