Test Name & Code:
• Test Name: ACTN3 Mutation Analysis
• Test Code: 5210
• Test Code: 5210
Related Diseases & Genes:
• Alpha-actinin-3 deficiency (OMIM #: Sprinting performance) || Gene: ACTN3 (OMIM #: 102574)
Synonyms:
• “ACTININ, ALPHA-3”
• Alpha Actinin R577X Polymorphism Analysis
• Alpha Actinin R577X Polymorphism Analysis
Test Details:
• Methodology: PCR-RFLP
• Performed: Everyday
• Reported: 7-10 days
• Performed: Everyday
• Reported: 7-10 days
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Predisposition/Risk Factors
