Maturity Onset Diabetes of the Young (MODY): Deletion/Duplication Panel

Condition Description

Maturity-onset diabetes of the young (MODY) is defined by the clinical features of early-onset Type 2 (non-insulin-dependent) diabetes and an autosomal dominant inheritance. Pathogenic variants in four genes have been shown to cause MODY, with each having a defined clinical presentation. In the European Caucasian population, molecular analysis of these four genes is useful in confirming the clinical diagnosis of MODY and the prediction of the future clinical course.
  • Hattersley. (1998), Diabet Med, 15:15-24.
  • Stride and Hattersley. (2002), Ann Med, 34:207-216.

Genes (4)

Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.


This test is indicated for individuals with:
  • Confirmation of a clinical diagnosis of maturity-onset diabetes of the young (MODY).
  • Carrier testing in adults with a family history of hereditary maturity-onset diabetes of the young (MODY).


Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.


Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient\'s clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.
  • Maturity Onset Diabetes of the Young (MODY): Sequencing Panel

How to Order

Requisition Forms