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SHOX (GHD) DNA Sequencing and Deletion
Test Code91566
CPT Codes
81405, 81479<br><strong>CPT coding may differ dependent on payer rules which may impact prior authorization testing.</strong><br><strong>Please direct any questions regarding CPT coding to the payer being billed.</strong>
Preferred Specimen
8 mL whole blood collected in an EDTA (lavender-top) tube, or
Pediatric volume: 2 mL
Pediatric volume: 2 mL
Minimum Volume
6 mL
Pediatric: 1 mL
Pediatric: 1 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Shipping Conditions: Avoid freezing.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Shipping Conditions: Avoid freezing.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Multiplex Ligation-dependent Probe Amplification (MLPA) • Polymerase Chain Reaction (PCR) and DNA Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Varies; Report available: 14-21 days
Reference Range
No deletions detected, no sequence variation detected
Clinical Significance
Detects deletions and sequence variations in the SHOX gene.
Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752