Maturity Onset Diabetes of the Young (MODY)
NGS panel

Genes
(full
coding
region):		 ABCC8, BLK, CEL, GCK, HNF1A, HNF4A, HNF1B, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1, RFX6, ZFP57

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: CEL, GCK, HNF1A, HNF4A, HNF1B, INS, KLF11, NEUROD1, PAX4, PDX1
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Predictive testing for MODY1 and MODY3
  3. Genetic counseling