VariFind™ AIP Assay
NGS-based assay for detection of clinically significant genetic variants in 12 genes associated with severe autoinflammatory disorders

Intended use: genetic diagnosis of inflammatory disorders
Assay information
Genes
MEFV
TNFRSF1A
NLRP3
MVK
NOD2
IL1RN
IL10RA
IL10RB
IL10
PSTPIP1
LPIN2
PLCG2

Disorders
Familial mediterranean fever (FMF)
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
Neonatal onset multisystem inflammatory disease (NOMID) and etc.
Mevalonate kinase deficiency (MKD) and etc.
Blau syndrome (BS)
Interleukin 1 receptor antagonist deficiency (DIRA)
Inflammatory bowel disease 28 (IBD28)
Inflammatory bowel disease 25 (IBD25)
Rheumatoid arthritis
PAPA syndrome (PAPAS)
Majeed syndrome (MJDS)
Familial cold autoinflammatory syndrome 3 (FCAS3)
Analyzed region
All exones + UTRs
Target region size
31 kb
Specific features
Included to design: PLCG2, 8.2-KB DEL
*do not require confirmation via MLPA
Platform
Thermo Fisher Scientific Ion PGM/S5
Product composition
Reagents kit
Targeted enrichment , library preparation, molecular barcoding
VariFind™ Software for
MPS data analysis & variants annotation
Assay workflow
NGS Libraries Preparation
Sequencing
Automated data analyis & annotation
Report generation
Made on
Tilda