NEONATAL DIABETES: CLINICAL EXOME PANEL (Sec. & CNVs) – 39 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
850,00€
The Neonatal Diabetes Panel identifies monogenic causes of hyperglycemia before 6–12 months of age, including transient and permanent forms (KATP channel, 6q24 imprinting, pancreatic development, ER stress). NGS with SNVs, indels, and CNVs guides management (e.g., sulfonylureas targeting KCNJ11/ABCC8) and neurological/syndromic prognosis. Genes included: ABCC8, KCNJ11, INS, PDX1, PTF1A, RFX6, PLAGL1, GATA6, HNF1A, HNF4A, EIF2AK3, IER3IP1, GLIS3, NEUROD1, NEUROG3, SLC2A2, STAT1, STAT3, WFS1, ZFP57, and others. For a complete list of the genes studied, please contact Genotica.
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