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SHOX-DNA-Dx
Test Code10313
CPT Codes
81479<br /> Limited Access Code
Preferred Specimen
3 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
1 mL
Other Acceptable Specimens
Whole blood collected in an ACD solution (yellow-top) tube
Instructions
Consent form for Genetic Testing SHOX Gene Analysis required
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 28 days
Refrigerated: 28 days
Frozen: Unacceptable
Refrigerated: 28 days
Frozen: Unacceptable
Methodology
Denaturing high-pressure liquid chromatography (DHPLC)
Setup Schedule
Set up: Varies; Report available: 18-30 days
Reference Range
See Laboratory Report
Clinical Significance
Identifies mutations causing short stature related to SHOX deficiency. SHOX deficiency is an indication for somatotropin (Humatrope®).
