Genetic TestsKostmann Disease (HAX1 Gene)

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Test Name & Code:
• Test Name: Kostmann Disease (HAX1 Gene)
• Test Code: 3635
Synonyms:
• HCLS1-Associated Protein X1
• Neutropenia, Severe Congenital, 3, Autosomal Recessive (SCN3)
• HAX1 Mutation Analysis
• Infantile Agranulocytosis
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 3 weeks
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
Testing Area(s):
• Hematogenetics
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