Genetic TestsWaardenburg Syndrome

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Test Name & Code:
• Test Name: Waardenburg Syndrome
• Test Code: 3182
Synonyms:
• WAARDENBURG SYNDROME WITH DYSTOPIA CANTHORUM
• PAX3 Mutations
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 2-3 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):
• Dsymorphology
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