Recommendations when to order or not order the test. May include related or preferred tests.
Use to detect pathogenic variants in the SHOX gene causative of SHOX deficiency disorders (eg, isolated short stature [ISS], Leri-Weill dyschondrosteosis [LWD], and Langer mesomelic dysplasia [LMD]).
Normal range/expected value(s) for a specific disease state. May also include abnormal ranges.
By report
Interpretive Data
Background information for test. May include disease information, patient result explanation, recommendations, details of testing, associated diseases, explanation of possible patient results.
Refer to report
Compliance Category
Laboratory Developed Test (LDT)
Note
Additional information related to the test.
Gene Tested: SHOX (NM_000451), exon 6b (NM_006883) is not sequenced.
The American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
* 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
Other names that describe the test. Synonyms.
isolated short stature
Langer mesomelic dysplasia (LMD)
Leri-Weill dyschondrosteosis (LWD)
SHOX Deficiency Disorders, Sequencing and Deletion/Duplication
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