Test Name & Code:
• Test Name: SHOX Deletion
• Test Code: 3621
• Test Code: 3621
Related Diseases & Genes:
• Langer mesomelic dysplasia (OMIM #: 249700) || Gene: SHOX (OMIM #: 312865)
• Leri-Weill dyschondrosteosis (OMIM #: 127300)
• Short stature, idiopathic familial (OMIM #: 300582)
• Leri-Weill dyschondrosteosis (OMIM #: 127300)
• Short stature, idiopathic familial (OMIM #: 300582)
Synonyms:
• SHORT STATURE HOMEOBOX
Test Details:
• Methodology: FISH
• Performed: Everyday
• Reported: 1-2 weeks
• Performed: Everyday
• Reported: 1-2 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with Heparin
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with Heparin
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Dysmorphology
• Inborn Errors of Metabolism
• Inborn Errors of Metabolism
