Ordering Recommendation

Use to confirm a diagnosis of maturity-onset diabetes of the young (MODY) or neonatal diabetes (ND) in a symptomatic individual. Use as predictive diagnostic or carrier testing in individuals with a family history of MODY or ND.

New York DOH Approval Status

Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or yellow (ACD solution A or B).
New York State Clients: Lavender (EDTA)

Specimen Preparation

Transport 3 mL whole blood. (Min: 1.5 mL)
New York State Clients: 5 mL (Min: 3 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
New York State Clients:  Ambient: 48 hours; Refrigerated: 1 week; Frozen: Unacceptable

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

10-15 days

Reference Interval

By report

Interpretive Data

Refer to report.  

Compliance Category

Laboratory Developed Test (LDT)

Note

Genes tested: ABCC8*; APPL1; CEL*; EIF2AK3; FOXP3; GATA4; GATA6; GCK; HNF1A; HNF1B; HNF4A; INS; KCNJ11; NEUROD1; NEUROG3; PDX1; RFX6; SLC19A2; WFS1; ZFP57
*One or more exons are not covered by sequencing for the indicated gene; see Additional Technical Information.

Hotline History

N/A

CPT Codes

81403; 81404; 81405; 81406; 81479

Components

Component Test Code* Component Chart Name LOINC
3001594 Monogenic Diabetes Interp
3001676 Monogenic Diabetes Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • congenital diabetes
  • diabetes mellitus of infancy
  • diabetes of adolescence
  • Maturity onset diabetes of the young
  • MODY
  • neonatal diabetes
  • permanent diabetes mellitus
MODY and Neonatal Diabetes Panel, Sequencing