CONGENITAL DIARRHEA AND ENTEROPATHIES: CLINICAL EXOME PANEL (Sec. & CNVs) – 177 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Congenital Diarrhea and Enteropathy Panel analyzes 177 genes associated with intractable diarrhea of neonatal or infantile onset, failure to thrive, and the need for parenteral nutrition. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, it allows the study of genes involved in nutrient transport, intestinal epithelial maturation, microvilli formation, epithelial barrier integrity, and the intestinal immune response. This panel facilitates the differential diagnosis between structural, immunological, and metabolic causes, enabling individualized management, therapeutic guidance, and family genetic counseling. Genes included: MYO5B, EPCAM, SPINT2, TTC7A, DGAT1, PCSK1, SI, SLC5A1, IL10, IL10RA, IL10RB, LRBA, CTLA4, BTK, DOCK8, and others. For a complete list of the genes studied, please contact Genotica.
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