MODY and Neonatal Diabetes Panel, Sequencing

3001593
copy
 

Copy Utility


emailprint
Example Reports
Negative
Positive

Icon

Patient History for MODY and Neonatal Diabetes

Icon

Additional Technical Information

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

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
05/17/2021
X
N/A

CPT Codes

81403; 81404; 81405; 81406; 81479

Are you an ARUP Client? Click here for your pricing.

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