Monogenic Diabetic Panel

Our Monogenic diabetic panel is recommended for patient with abnormalities in glucose metabolism such as hyperinsulinemia hypoglycemia, MODY, diabetes in adults and familial hypercholesterolemia, as well as for patients displaying insulin resistance, from mild to the severe spectrum (Donohue syndrome), and for patients with familial hyperinsulinism. Disorders caused by imprinting errors or uniparental disomy, such as 6q24-related transient neonatal diabetes mellitus and Beckwith Wiedemann syndrome, are not detected with this panel.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:54 ABCC8, AIRE, AKT2, ALMS1, APPL1, BLK, CISD2, CNOT1, CP, DCAF17, DNAJC3, DYRK1B, EIF2AK3, EIF2B1, EIF2S3, FOXP3, GATA4, GATA6, GCK, GLIS3, HNF1A, HNF1B, HNF4A, IER3IP1, IL2RA, INS, INSR, ITCH, KCNJ11, KLF11, LRBA, MAFA, NEUROD1, NEUROG3, NKX2-2, PAX4, PAX6, PCBD1, PDX1, PIK3R1, POLD1, PPP1R15B, PTF1A, RFX6, SLC19A2, SLC29A3, SLC2A2, STAT1, STAT3, TRMT10A, WFS1, ZBTB20, ZFP57, ZMPSTE24