Maturity-Onset Diabetes of the Young (MODY) Expanded Genetic Panel
Also known as: MODY
Use
Diagnostic testing
Special Instructions
Not provided.
Limitations
The assay may not consistently detect mosaicism or large chromosomal aberrations such as rearrangements and inversions that do not alter the copy number. It does not detect repeat expansions, and false results may occur due to various factors like rare variant information, sample labeling, and familial relationship errors. Some pathogenic copies and sequence variations might not be caught due to insufficient coverage or technical limitations like pseudogene interference and tissue-specific mosaicism effects. Low levels of heteroplasmy might also be undetectable.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51969-4 - Gene analysis narr rpt Doc
- 51969-4 - Gene analysis narr rpt Doc
- 50397-9 - Mol dx interp Bld/T Ql
- 8251-1 - Service Cmnt-Imp
- 80563-0 - Report
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy collection method.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
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