Casandra
Casandra Test Code QD48247Version 1 (DRAFT)
Performing Lab
Lab Quest DiagnosticsLab Test ID N/A
SHOX (GHD) DNA Sequencing and Deletion Test
Clinical Use
Order TestUse
Detects deletions and sequence variations in the SHOX gene for evaluation of growth hormone deficiency and short stature, particularly in presentations such as idiopathic short stature, reduced extremities-to-trunk ratio, Madelung wrist deformity, or family history of Leri‑Weill dyschondrosteosis or Madelung wrist deformity.
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
Other
Biomarkers
SHOX
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen Requirements
Not provided.
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