MODY and Neonatal Diabetes Panel, Sequencing
Also known as: MODY NGS
Use
The MODY and Neonatal Diabetes Panel, Sequencing is employed to confirm a diagnosis of maturity-onset diabetes of the young (MODY) or neonatal diabetes in symptomatic individuals. It is also used for predictive diagnostic or carrier testing in individuals with a family history of these conditions. The panel identifies pathogenic germline variants in numerous genes involved with these forms of diabetes, helping in both diagnosis and risk assessment.
Special Instructions
Not provided.
Limitations
The test detects variants within coding regions and intron-exon boundaries of targeted genes. Variants in regulatory regions, deep intronic areas, and large deletions/duplications will not be identified. There are limitations in detecting certain variants due to technical constraints such as pseudogenes, repetitive or homologous regions. Diagnostic errors can occur due to rare sequence variations. The test is not intended to detect low-level mosaicism, somatic mutations, gene conversion events, complex inversions, translocations, mitochondrial DNA variants, or repeat expansions. Noncoding transcripts are not analyzed. Some exons of indicated genes like CEL and ABCC8 are not covered fully by sequencing.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1.5 mL
Container
Lavender (EDTA) or yellow (ACD solution A or B) tube
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
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