MODY DIABETES: CLINICAL EXOME PANEL (Sec. & CNVs) – 18 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The MODY (Maturity Onset Diabetes of the Young) panel is designed to study monogenic forms of non-autoimmune diabetes, characterized by early onset (before age 25), autosomal dominant inheritance, and partial preservation of endogenous insulin secretion. This panel allows for the clinical differentiation of MODY diabetes from types 1 and 2, preventing inappropriate treatments and identifying family members who are carriers. Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, it analyzes genes involved in pancreatic development (PDX1, NEUROD1, HNF1B), β-cell function, and the insulin secretion mechanism (GCK, KCNJ11, ABCC8). Identifying the genetic cause allows for tailored treatment (e.g., the use of sulfonylureas in MODY3 – HNF1A or dietary management in MODY2 – GCK) and the establishment of personalized follow-up strategies. Genes included: ABCC8, BLK, CEL, GATA6, GCK, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, RFX6, WFS1.
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