Test Name & Code:
• Test Name: CIAS1 Gene Mutations
• Test Code: 1849
• Test Code: 1849
Related Diseases & Genes:
• CINCA syndrome (OMIM #: 607115) || Gene: NLRP3 (OMIM #: 606416)
• “Cold-induced autoinflammatory syndrome, familial” (OMIM #: 120100)
• Muckle-Wells syndrome (OMIM #: 191900)
• “Cold-induced autoinflammatory syndrome, familial” (OMIM #: 120100)
• Muckle-Wells syndrome (OMIM #: 191900)
Synonyms:
• CIAS1 Gene (CIAS1)
• “Nacht Domain-, Leucine-Rich Repeat-, and PYD-Containing Protein 3 (NALP3)”
• Pyrin Domain-Containing APAF1-Like Protein 1 (PYPAF1)
• NALP3 Mutations
• PYPAF1 Mutations
• FCAS
• “Nacht Domain-, Leucine-Rich Repeat-, and PYD-Containing Protein 3 (NALP3)”
• Pyrin Domain-Containing APAF1-Like Protein 1 (PYPAF1)
• NALP3 Mutations
• PYPAF1 Mutations
• FCAS
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 1-2 weeks
• Performed: Everyday
• Reported: 1-2 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
• 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):
• Multisystem Diseases
