CINCA syndrome

NLRP3 - CINCA syndrome

This test is available for the following conditions:

• Conditions > Immunological, hereditary > CINCA syndrome

This product is also part of the following panels:

• Hearing impairment panel (including GJB2)
• Mendelian inherited disorders panel with genome wide CNV analysis
• Primary immunodeficiencies panel
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• Skin disorders panel¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 606416
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

---