
Test Name & Code:
• Test Name: RETT Syndrome MECP2 Deletion Analysis
• Test Code: 3313
• Test Code: 3313
Related Diseases & Genes:
• Rett syndrome, preserved speech variant (OMIM #: 312750) || Gene: MECP2 (OMIM #: 300005)
• Rett syndrome (OMIM #: 312750)
• Rett syndrome (OMIM #: 312750)
Synonyms:
• MECP2 Deletion Analysis
• methyl-CpG-binding protein-2
• methyl-CpG-binding protein-2
Test Details:
• Methodology: MLPA
• Reported: 3 weeks
• Reported: 3 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):
• Neurogenetics
