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SHOX Mutation Detection
2012125
Ordering Recommendation
Mnemonic
SHOX
Methodology
Polymerase Chain Reaction/ High Performance Liquid Chromatography/Sequencing
Performed
Varies
Reported
14-24 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA) or yellow (ACD). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Refrigerated. Also acceptable: Room temperature. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 1 week; Refrigerated: 2 weeks; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data


Components
Component Test Code*Component Chart NameLOINC
2012126SHOX Mutation Detection
2012127SHOX Mutation Result41057-1
2012128SHOX Mutation Interpretation34500-9
2012129SHOX Mutation Comment
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • Short Stature Homeobox
  • SHOX deficiency

Performed at LabCorp