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Specimen Collection Manual and Test Catalog

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SHOX (GHD) DNA SEQUENCING AND DELETION

Geisinger Epic Procedure Code:  LAB1162    Geisinger Epic ID:  52573

SPECIMEN COLLECTION
Specimen type: 

Whole blood


Preferred collection container: 
Specimen required: 

Adult: 8 mL whole blood: minimum 6 mL. Pediatric: 2 mL whole blood; minimum 1 mL.


Special notes: 

Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. 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.



SPECIMEN PROCESSING
Transport temperature: 

Room temperature.


Specimen stability: 

Room temperature: 10 days. Refrigerated: 10 days. Frozen: Unacceptable.



TEST DETAILS
Additional information: 

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.


CPT code(s):  81405, 81479
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.
The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.

Methodology: 
DNA Sequencing
Multiplex Ligation-dependent Probe Amplification
Polymerase Chain Reaction (PCR)
Synonyms: 

Quest test code 91566 SHOX (GHD)


Clinical significance: 

Detects deletions and sequence variations in the SHOX gene.


Review Date:  12/09/2024

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