MONOGENEIC DIABETES: CLINICAL EXOME PANEL (Sec. & CNVs) – 60 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Monogenic Diabetes Panel offers a comprehensive view of the genetic causes affecting insulin secretion or action, pancreatic development, the endoplasmic reticulum stress response, and the immunoregulatory mechanisms involved in glucose regulation. It is indicated for patients with early-onset, atypical, or familial diabetes who are negative for pancreatic autoantibodies and whose characteristics do not fit the typical diagnosis of type 1 or type 2 diabetes. Using next-generation sequencing (NGS) technology with the detection of single-cell variants (SNVs), indels, and conjugate chromosomes (CNVs), it allows for the identification of causative variants in genes associated with neonatal, MODY-like, or multisystemic forms of diabetes (e.g., Wolfram, IPEX, Rabson-Mendenhall). This facilitates accurate molecular diagnosis, guiding targeted therapy (sulfonylureas, insulin, GLP-1 analogues) and family genetic counseling. Genes included: ABCC8, KCNJ11, GCK, HNF1A, HNF4A, HNF1B, PDX1, NEUROD1, RFX6, INS, INSR, EIF2AK3, WFS1, FOXP3, GLIS3, and others. You can consult the rest of the genes studied by contacting Genotica.
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