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Modular library preparation
DNA and RNA isolation
Inherited disorders test systems
HLA-typing test system
Servers for genomic data
⠀⠀⠀⠀Test system for detecting genetic variants in 11 genes associated with systemic auto-inflammatory diseases (SAIDs) using next-generation sequencing (NGS).
⠀⠀⠀⠀Contains library preparation reagents and access to VariFind™ Software for data analysis.
⠀⠀⠀⠀Contains library preparation reagents and access to VariFind™ Software for data analysis.
VariFind™ AIP assay
For research use only
Product highlights
High sensitivity and specificity
The solution is validated against samples from the National Institute of Standards and Technology (USA); the bioinformatics pipeline is validated in accordance with the recommendations of the Association for Molecular Pathology (USA).
Does not require bioinformatician
Fully automatic analysis and data quality assessment, including contamination control and sample sex determination in VariFind™ software.
Simple and fast interpretation
Proprietary mutation base annotated according to standards published by the American College of Medical Genetics and Genomics (ACMG). Links to external sources of annotation such as ClinVar, dbSNP and gnomAD databases. Ability to request a qualified annotation of a discovered new variant.
Specifications
Genes and associated diseases
Description
⠀⠀⠀⠀Systemic autoinflammatory diseases (SAIDs) are a growing group of disorders caused by a dysregulation of the innate immune system leading to episodes of systemic inflammation. Causes of SAIDs might be either monogenic or multifactorial. Due to lack of obvious reasons for manifestation and rarity of diseases among population, the diagnosis might take years. And for at least 40-60% of patients with phenotypes typical for SAIDs, a distinct diagnosis cannot be met. (Krainer J., et al. 2020).
Gene
Related diseases
IL1RN
Interleukin 1 receptor antagonist deficiency (DIRA)
IL10RA
Inflammatory bowel disease 28 (IBD28)
IL10RB
Inflammatory bowel disease 25 (IBD25)
LPIN2
Majeed syndrome (MJDS)
MEFV
Familial Mediterranean fever (FMF)
MVK
Mevalonate kinase deficiency (MKD)
NLRP3
Neonatal onset multisystem inflammatory disease (NOMID)
Muckle-Wells syndrome (MWS)
NOD2
Blau syndrome (BS)
PLCG2
Familial cold autoinflammatory syndrome 3 (FCAS3)
Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID)
PSTPIP1
PAPA syndrome (PAPAS)
TNFRSF1A
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
Features
Specifications
Number of genes
11
Analyzed regions
Target regions include coding DNA sequences (CDSs)
Limitations
The kit is not intended for detection of CNV (except for PLCG2 8.2-KB DEL), extended STR and homopolymer variants
Analyte
DNA isolated from peripheral blood, dry blood spots, or buccal epithelium (saliva)
Number of amplicons
226
Sequencing regions length, b.p.
59 203
Biological identifier (BID)*
Included
Time to results
from 26 to 34 hours
Compatible platforms
Illumina и Thermo Fisher Scientific
Target enrichment
Multiplex PCR
Recommended number of reads per sample
113 000
Read length, b.p.
300 p.n.
Ordering information
VariFind™ AIP assay, 24 reactions
Cat. No. VF-AIP-24EN
Contents: reagent kit for targeted amplification and library preparation, access to VariFind™ Software.
Additionally required: VariFind MultiOligos platform-specific adapters and indexes.
Contents: reagent kit for targeted amplification and library preparation, access to VariFind™ Software.
Additionally required: VariFind MultiOligos platform-specific adapters and indexes.
VariFind™ AIP assay, 48 reactions
Cat. No. VF-AIP-48EN
Contents: reagent kit for targeted amplification and library preparation, access to VariFind™ Software.
Additionally required: VariFind MultiOligos platform-specific adapters and indexes.
Contents: reagent kit for targeted amplification and library preparation, access to VariFind™ Software.
Additionally required: VariFind MultiOligos platform-specific adapters and indexes.
Related products
A systematic approach to genomic research
Czech Republic, 252 63 Roztoky, Felklova 2014
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info@parseq.pro
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