Cost 
$3,800.00
TAT 
6 weeks
CPT Code 
81407
Test Code 
2141
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
For individuals who have the MODY Panel, sequencing and deletion/duplication analysis of the HNF1A, HNF4A and HNF1B genes is available under a research basis at no additional cost.
Any gene in the MODY Panel can also be ordered individually (excluding genes offered on a research basis only). Please contact us directly for cost and CPT code information.
If sending saliva, 2 kits are required.

The most prevalent monogenic diabetes phenotype, accounting for approximately 1% of all causes of diabetes, is MODY (maturity onset diabetes of the young). MODY is characterized by dominant inheritance of early-onset non-autoimmune diabetes that occurs in adolescence and young adulthood. However a residual insulin secretion may be still maintained for some years after diagnosis and exogenous insulin is generally not required at the time of diagnosis. These patients are typically misdiagnosed as Type 1 or Type 2 diabetes, however two or more consecutive generations of diabetes and the absence of metabolic features (significant obesity or features of insulin resistance) is more suggestive of MODY. MODY is a heterogeneous group of disorders caused by mutations in genes important to pancreatic β-cell development, function, and regulation, glucose sensing and in the insulin gene itself. The most common forms of MODY are due to mutations in the HNF1A and HNF4A genes, which encode for transcription factors important to pancreatic development and beta cell function, and in the glucokinase gene, GCK. Mutations in at least 7 other genes can cause inherited diabetes with a MODY phenotype. Recent reports have described the identification of mutations in ABCC8 and KCNJ11 in MODY patients suggesting that mutations in these genes can be associated with a large spectrum of diabetes phenotypes and may exhibit incomplete penetrance in some generations. A molecular diagnosis of MODY has important implications for treatment and identifies at-risk family members.

Our MODY Panel includes sequence and deletion/duplication analysis of the following 10 genes: GCK, PDX1, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11. For individuals who have the MODY Panel, sequencing and deletion/duplication analysis of the HNF1A, HNF4A and HNF1B genes is available under a research basis at no additional cost.

Any gene in the MODY Panel can also be ordered individually (excluding genes offered on a research basis only). Please contact us directly for cost and CPT code information.

Please use our endocrinology requisition form to order this testing.