Test Name & Code:
• Test Name: SOX9 Mutations
• Test Code: 4030
• Test Code: 4030
Related Diseases & Genes:
• Acampomelic campomelic dysplasia (OMIM #: 114290) || Gene: SOX9 (OMIM #: 608160)
• Campomelic dysplasia (OMIM #: 114290)
• Campomelic dysplasia with autosomal sex reversal (OMIM #: 114290)
• Campomelic dysplasia (OMIM #: 114290)
• Campomelic dysplasia with autosomal sex reversal (OMIM #: 114290)
Synonyms:
• SRY-RELATED HMG-BOX GENE 9
• SRY-BOX 9
• XY sex reverse
• XY female
• SRY-BOX 9
• XY sex reverse
• XY female
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 2 weeks
• Performed: Everyday
• Reported: 2 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: 5-10 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: 5-10 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Dysmorphology