NEURAL TUBE DEFECTS: CLINICAL EXOME PANEL (Sec. & CNVs) – 84 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Neural Tube Defects (NTD) panel analyzes 84 genes involved in congenital malformations of the central nervous system caused by incomplete closure of the neural tube during embryonic development, such as spina bifida, anencephaly, encephalocele, and myelomeningocele. These disorders can occur in isolation or syndromically and are associated with genetic, environmental, and folate metabolism factors. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel allows the study of genes involved in neural morphogenesis, WNT and SHH signaling, folate metabolism, and cell polarity, contributing to etiological diagnosis and the assessment of familial genetic risk. Among the most relevant genes included are MTHFR, VANGL1, VANGL2, SHH, PTCH1, CELSR1, FUZ, ZIC2, TBX6, and PDGFRA, among others. You can consult the complete list of genes by contacting Genotica.
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