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.
Related Tests
Other tests from different labs that may be relevant
SHOX Deficiency Disorders, Sequencing and Deletion/Duplication
ARUP Laboratories
SHOX-Related Disorders via the SHOX Gene
Prevention Genetics
SHOX Gene Sequencing
Labcorp
Comprehensive Short Stature Genetic Panel
Labcorp
Deletion/Duplication Analysis by MLPA
ARUP Laboratories
Growth Hormone Deficiency Genetic Panel
Labcorp
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication
ARUP Laboratories
Short Rib Skeletal Dysplasia Panel
Prevention Genetics
X-Linked Hypoparathyroidism via the Interstitial Deletion-Insertion Involving Chromosomes 2p25.3 and Xq27.1, Near SOX3
Prevention Genetics
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal
ARUP Laboratories