SHOX Gene Sequencing
Use
Diagnostic testing
Special Instructions
Not provided.
Limitations
This assay does not consistently detect mosaicism or large chromosomal aberrations such as rearrangements and inversions that do not alter copy number. Repeat expansions are not detected. False positives or negatives may arise due to rare genetic variants, pseudogene interference, sex chromosome abnormalities, homologous regions, or limited clinical information. DNA-derived samples may be impacted by blood transfusions or marrow transplantations. Lack of adequate clinical information or uncommon genetic variations can also influence variant interpretation.
Methodology
NGS (Targeted)
Biomarkers
SHOX
Gene
LOINC Codes
- 41057-1 - SHOX gene Mut Anl Bld/T
- 41057-1 - SHOX gene Mut Anl Bld/T
- 93364-8 - Genetic variant diag sig Bld/T-Imp
- 77202-0 - Laboratory comment Report
- 11502-2 - Laboratory report
Result Turnaround Time
24-28 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 |
Other tests from different labs that may be relevant