Comprehensive Short Stature Genetic Panel
Also known as: Idiopathic Short Stature
Use
Diagnostic testing
Special Instructions
This assay currently is not available in New York state. Genetic counseling is recommended. Interpretation of the clinical significance of gene variations is based on the information available at the time of reporting and may change as new evidence emerges.
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. It does not detect repeat expansions. False positive or false negative results may occur for reasons including rare genetic variants, pseudogene interference, blood transfusions, somatic mosaicism, or mislabeled samples.
Methodology
NGS (Targeted)
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