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.

Mnemonic

MODY NGS

Methodology

Massively Parallel Sequencing

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender (EDTA) or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1.5 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report.  

Compliance Category

Laboratory Developed Test (LDT)

Note

Genes tested: ABCC8*, APPL1, BLK, CEL*, EIF2AK3, FOXP3, GATA4, GATA6, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, NEUROG3, PAX4, PDX1, RFX6, SLC19A2, WFS1, ZFP57
*CEL (NM_001807) exons 1, 8, 9, 11 are not sequenced due to technical limitations of the assay.
*ABCC8 (NM_001351295) partial exon 14 (Chr11:17449973-17450018) is not sequenced due to technical limitations of the assay.

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