SHOX-Related Disorders via the SHOX Gene
Use
This test is intended for individuals with clinical or suspected diagnosis of SHOX-related disorders. These disorders are associated with short stature due to haploinsufficiency of the SHOX gene. SHOX-related disorders can include conditions such as Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. The gene in question, SHOX, is important for normal growth and development, particularly for the bones in the arms and legs.
Special Instructions
Not provided.
Limitations
This test uses Sanger sequencing, which may not detect all types of mutations, such as large deletions or duplications beyond the sequence covered. It's essential to complement this sequencing method with other analyses if the clinical presentation strongly suggests a SHOX-related disorder but initial results are inconclusive. Variants of unknown significance (VUS) may be identified, which require further clinical correlation and possible family studies for better interpretation.
New York Approved
Methodology
Sanger
Biomarkers
SHOX
Gene
Result Turnaround Time
12-20 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided