GASTROINTESTINAL ATRESIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 14 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Gastrointestinal Atresia Panel studies 14 genes related to congenital malformations of the digestive tract, including esophageal, duodenal, jejunoileal, and anorectal atresias. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, it analyzes genes involved in morphogenesis, epithelial differentiation, intestinal tube formation, and cell signaling during embryonic development. Its application allows for accurate genetic diagnosis, guides surgical management, predicts potential syndromic associations, and provides family genetic counseling. Genes included: CHD7, CLMP, DHCR7, EFTUD2, FANCB, FANCC, GLI3, MID1, MNX1, MYCN, PTF1A, RFX6, SOX2, TTC7A.
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