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Maturity-Onset Diabetes of the Young (MODY) Genetic Profile

CPT: 81404; 81405(x2); 81406(x2)
Updated on 01/29/2020
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Test Includes

This profile detects pathogenic variants and copy number variants in the coding sequence and exon-intron junctions of the four genes most commonly involved in MODY: HNF1A, GCK, HNF4A, and HNF1B.

Special Instructions

A Clinical Questionnaire for Maturity-Onset Diabetes of the Young (MODY) should be submitted with specimens.

This assay is currently not available in New York.

This assay is currently not available in New York.

This assay is currently not available in New York.

A Clinical Questionnaire for Maturity-Onset Diabetes of the Young (MODY) should be submitted with specimens.

This assay is currently not available in New York.

Related Documents

Specimen Requirements


Whole blood


3.0 mL

Minimum Volume

1.0 mL


Lavender-top (EDTA) tube

Storage Instructions

Room temperature

Stability Requirements



Room temperature

14 days


14 days

Causes for Rejection

Improper specimens; frozen samples; hemolyzed samples

Test Details


Maturity-onset diabetes of the young (MODY) is a suspected diagnosis in young non-obese patients who lack an autoimmune cause for diabetes and who have a family history of diabetes in successive generations. The majority of MODY cases are due to mutations in one of four genes. Identifying a mutation in one of these MODY genes can lead to improved treatment, increased surveillance for related symptoms, and earlier detection in currently asymptomatic family members. GCK encodes the enzyme glucokinase, a key regulator of glucose metabolism in pancreatic beta cells. The three HNF (hepatic nuclear factor) genes encode transcription factors that regulate gene expression in the pancreas.

Mody #


Chromosome Location

RefSeq (Gene)























Mutation analysis is performed using bidirectional Sanger sequencing of the exons and splice junctions for each gene analyzed. Copy number variants (CNVs) are detected by semi‐quantitative PCR. Analytical sensitivity is estimated to be >99% for single nucleotide variants and small insertions/deletions, while clinical sensitivity can vary with the selection criteria and is predicted to be at least 85%. Variant classification is consistent with ACMG standards and guidelines. A variant of uncertain significance (VUS) is a classification based on inadequate or conflicting evidence and should not be used in clinical decision making. This assay reports pathogenic or likely pathogenic mutations and VUS's, while benign or likely benign variants are not reported. Numbering and nomenclature use the recommendations of the Human Genome Variation Society (HGVS: and the transcript versions listed above.

This analysis does not detect germline mosaicism, large chromosomal rearrangements that do not alter copy number, and regions or genes not included in this test. Variant classification and/or interpretation may change with time if more information becomes available. False positive or negative results may occur for reasons that include: genetic variants that affect the assay, blood transfusions, mosaicism, mislabeled samples, or erroneous representation of family relationships.


Sanger sequencing and MLPA


Bellanne‐Chantelot C, Clauin S, Chauveau D, et al. Large genomic rearrangements in the hepatocyte nuclear factor‐1beta (TCF2) gene are the most frequent cause of maturity‐onset diabetes of the young type 5. Diabetes. 2005 Nov;54(11):3126-3132.16249435
Ellard S, Thomas K, Edghill EL, et al. Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity‐onset diabetes of the young. Diabetologia. 2007 Nov;50(11):2313-2317.17828387
Ellard S, Colclough K. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat. 2006 Sep;27(9):854-869.16917892
Gloyn AL. Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. Hum Mutat. 2003 Nov;22(5):353-362.14517946
Hattersley AT, Patel KA. Precision diabetes: learning from monogenic diabetes. Diabetologia. 2017 May;60(5):769-777.28314945
Osbak KK, Colclough K, Saint-Martin C, et al. Update on mutations in glucokinase (GCK), which cause maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat. 2009 Nov;30(11):1512-1526.19790256


Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
504603 MODY Genetic Profile 504604 Preauthorization N/A
504603 MODY Genetic Profile 504605 Result 51969-4
504603 MODY Genetic Profile 504606 Interpretation 51968-6
504603 MODY Genetic Profile 504607 Comments 51967-8
504603 MODY Genetic Profile 504608 Additional Comments N/A
504603 MODY Genetic Profile 504609 Methods and Limitations 36908-2
504603 MODY Genetic Profile 504610 References 75608-0

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CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at Additional information regarding LOINC® codes can be found at, including the LOINC Manual, which can be downloaded at