Combined Pituitary Hormone Deficiency Genetic Panel
Use
Diagnostic testing
Special Instructions
This assay currently is not available in New York state. Genetic counseling is recommended for patients and families receiving results.
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 copy number of genomic regions. The NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons including insufficient information available about rare genetic variants, pseudogene interference, homologous regions, and mislabeled samples. Interpretation of gene variations is limited by available information and may change with new evidence.
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 |