CONGENITAL ANOMALIES OF THE GASTROINTESTINAL TRACT: CLINICAL EXOME PANEL (Sec. & CNVs) – 161 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Gastrointestinal Congenital Anomalies Panel analyzes 161 genes involved in the embryonic development of the digestive tract, associated with malformations such as atresias, malrotations, anorectal defects, Hirschsprung's disease, and congenital enteropathies. Using next-generation sequencing (NGS) with the detection of SNVs, indels, and CNVs, it identifies variants in genes involved in the SHH, WNT, NOTCH, BMP, and FGF pathways, which are essential for neural crest neuronal morphogenesis and migration. This analysis guides etiological diagnosis, the identification of associated syndromes, and family genetic counseling. Genes included: RET, GDNF, EDN3, EDNRB, SOX10, SHH, GLI3, JAG1, NOTCH1, FOXF1, PTF1A, TTC7A, MYO5B, and others. For a complete list of the genes studied, please contact Genotica.
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