Maturity-Onset Diabetes of the Young (MODY) 4-Gene Panel
Use
Diagnostic testing
Special Instructions
This assay currently is not available in New York state. The test includes targeted next-generation sequencing for the specified genes.
Limitations
This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change the copy number of genomic regions. The NGS technology employed does not detect repeat expansions. False positive or negative results may arise due to factors like rare variant information, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, and mislabeled samples or incorrect family relationship representations. Additionally, low levels of heteroplasmy may not be reliably detected. Interpretation is limited by available variant information at the time of reporting and clinical data quality.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 50397-9
- 50397-9
- 56850-1
- 8251-1
- 11502-2
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
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 |