Growth Hormone Deficiency Genetic Panel
Also known as: GHD, Isolated Growth Hormone Deficiency
Use
Diagnostic testing
Special Instructions
Not provided.
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. Limitations include insufficient information about rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, and other technical issues leading to false positive or false negative results.
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
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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