Congenital Hyperinsulinism Genetic Panel
Also known as: Hypoglycemia
Use
Diagnostic testing
Special Instructions
The test currently is not available for residents in New York state. To ensure accurate results, follow the recommended specimen collection guidelines. Contact MNG Genetic Services for specific instructions regarding extracted DNA samples. Use standard phlebotomy techniques for whole blood collection and follow the provided kit instructions for oral swab samples.
Limitations
The assay does not consistently detect mosaicism or large chromosomal aberrations that do not change copy number, such as rearrangements and inversions. Repeat expansions are not detected by this NGS assay. Issues such as rare genetic variants, pseudogene interference, mislabeling, blood transfusions, and tissue-specific mosaicism could lead to false results. Interpretation is dependent on the available clinical data and can change over time as more information becomes available.
Methodology
NGS
Biomarkers
LOINC Codes
- 51969-4
- 51969-4
- 50397-9
- 8251-1
- 80563-0
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 |
| Frozen | do not freeze |
Other tests from different labs that may be relevant