SHOX (GHD) DNA Sequencing and Deletion

Test Code

91566

CPT Codes
81405, 81479

Preferred Specimen

8 mL whole blood collected in an EDTA (lavender-top) tube, or
Pediatric volume: 2 mL

Minimum Volume

6 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.

Transport Temperature

Room temperature

Specimen Stability

Room temperature: 10 days
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

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.