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
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
14-21 days
New York DOH Approval Status
Specimen Required
Lavender (EDTA) or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1.5 mL)
Refrigerated.
Serum or plasma; grossly hemolyzed or frozen specimens.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval
By report
Interpretive Data
Refer to report.
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
Hotline History
CPT Codes
81403; 81404; 81405; 81406; 81479
Components
Component Test Code* | Component Chart Name | LOINC |
---|---|---|
3001594 | Monogenic Diabetes Interp | |
3001676 | Monogenic Diabetes Specimen |
Aliases
- congenital diabetes
- diabetes mellitus of infancy
- diabetes of adolescence
- Maturity onset diabetes of the young
- MODY
- neonatal diabetes
- permanent diabetes mellitus