SHOX Gene Sequencing
Use
Diagnostic testing
Special Instructions
The assay uses next-generation sequencing to provide comprehensive genetic analysis of the SHOX gene. Collection for whole blood should use standard phlebotomy procedures, and the specimen should be maintained at room temperature or refrigerated, but not frozen. For oral swabs, the specific OCD-100 DNA Genotek kit should be used, following kit instructions carefully. For extracted DNA, contact MNG Genetic Services for guidance.
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
LOINC Codes
- 41057-1
- 41057-1
- 93364-8
- 77202-0
- 11502-2
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