Genetic TestsCYP27A1 Gene Deletion/Duplication Analysis

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Test Name & Code:
• Test Name: CYP27A1 Gene Deletion/Duplication Analysis
• Test Code: 5648
Synonyms:
• CEREBRAL CHOLESTERINOSIS
• CYP27
• STEROL 27-HYDROXYLASE
Test Details:
• Methodology: MLPA
• Performed: Everyday
• Reported: 4 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Neurogenetics
• Inborn Errors of Metabolism
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