AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1; FCAS; FCAS1; FCU; MWS; NALP3; PYPAF1
The NLRP3 gene is associated with autosomal dominant cryopyrin-associated periodic syndrome (MedGen UID: 412215).
Order this gene as a single gene test.
Invitae tests that include this gene:
Pathogenic variants in the NLRP3 gene are the only known cause of Cryopyrin-associated periodic syndrome (PMID: 25979514).
The NLRP3 gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site domain, and a leucine rich repeat motif. The pyrin-like protein plays a role in the regulation of inflammation, the immune response, and apoptosis. Pyrin-like protein forms a complex with the apoptosis-associated speck-like protein PYCARD/ASC that functions as an upstream activator of NF-kappaB signaling (PMID: 14630794).
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|