⠀⠀⠀⠀Test system for detecting genetic variants in 83 genes associated with lung diseases and related conditions using next-generation sequencing (NGS).
⠀⠀⠀⠀Contains library preparation reagents and access to VariFind™ Software for data analysis.
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
⠀⠀⠀Although in some cases not all the signs of cystic fibrosis mutations in the CFTR gene are detected, there are a number of studied markers for cystic fibrosis-associated syndromes that are less common. VariFind™ PULM facilitates the study of genes associated with these syndromes.
Gene
Related diseases
ABCA3
Lung Diseases and Associated Conditions
ACVRL1
Lung Diseases and Associated Conditions
AKAP13
Lung Diseases and Associated Conditions
BLOC1S3
Lung Diseases and Associated Conditions
BLOC1S6
Lung Diseases and Associated Conditions
BMPR2
Lung Diseases and Associated Conditions
BMPR2
Lung Diseases and Associated Conditions
CAV1
Lung Diseases and Associated Conditions
CCDC39
Lung Diseases and Associated Conditions
CCDC40
Lung Diseases and Associated Conditions
CFTR
Lung Diseases and Associated Conditions
CHRNA3
Lung Diseases and Associated Conditions
CHRNA5
Lung Diseases and Associated Conditions
CSF2RA
Lung Diseases and Associated Conditions
CSF2RB
Lung Diseases and Associated Conditions
DNAAF1
Lung Diseases and Associated Conditions
DNAAF2
Lung Diseases and Associated Conditions
DNAH11
Lung Diseases and Associated Conditions
DNAH5
Lung Diseases and Associated Conditions
DNAI1
Lung Diseases and Associated Conditions
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Gene
Related diseases
DNAI2
Lung Diseases and Associated Conditions
DNAL1
Lung Diseases and Associated Conditions
DOCK8
Lung Diseases and Associated Conditions
DPP9
Lung Diseases and Associated Conditions
DSP
Lung Diseases and Associated Conditions
DTNBP1
Lung Diseases and Associated Conditions
EDN3
Lung Diseases and Associated Conditions
EFEMP2
Lung Diseases and Associated Conditions
EIF2AK4
Lung Diseases and Associated Conditions
ELMOD2
Lung Diseases and Associated Conditions
ELN
Lung Diseases and Associated Conditions
ENG
Lung Diseases and Associated Conditions
FAM13A
Lung Diseases and Associated Conditions
FBLN5
Lung Diseases and Associated Conditions
FLCN
Lung Diseases and Associated Conditions
FOXF1
Lung Diseases and Associated Conditions
GDNF
Lung Diseases and Associated Conditions
GSTM1
Lung Diseases and Associated Conditions
GSTP1
Lung Diseases and Associated Conditions
HHIP
Lung Diseases and Associated Conditions
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Gene
Related diseases
HPS1
Lung Diseases and Associated Conditions
HPS4
Lung Diseases and Associated Conditions
IL10
Lung Diseases and Associated Conditions
IL13
Lung Diseases and Associated Conditions
IL17A
Lung Diseases and Associated Conditions
IL18R1
Lung Diseases and Associated Conditions
IL2RA
Lung Diseases and Associated Conditions
IL33
Lung Diseases and Associated Conditions
IL4
Lung Diseases and Associated Conditions
IL4R
Lung Diseases and Associated Conditions
KCNK3
Lung Diseases and Associated Conditions
LTBP2
Lung Diseases and Associated Conditions
LTBP4
Lung Diseases and Associated Conditions
MFAP4
Lung Diseases and Associated Conditions
MUC2
Lung Diseases and Associated Conditions
MUC5B
Lung Diseases and Associated Conditions
NKX2-1
Lung Diseases and Associated Conditions
NME8
Lung Diseases and Associated Conditions
OBFC1
Lung Diseases and Associated Conditions
PHOX2B
Lung Diseases and Associated Conditions
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Gene
Related diseases
RPGR
Lung Diseases and Associated Conditions
RSPH1
Lung Diseases and Associated Conditions
RSPH4A
Lung Diseases and Associated Conditions
RSPH9
Lung Diseases and Associated Conditions
SCNN1A
Lung Diseases and Associated Conditions
SCNN1B
Lung Diseases and Associated Conditions
SCNN1D
Lung Diseases and Associated Conditions
SCNN1G
Lung Diseases and Associated Conditions
SERPINA1
Lung Diseases and Associated Conditions
SFTPA1
Lung Diseases and Associated Conditions
SFTPA2
Lung Diseases and Associated Conditions
SFTPB
Lung Diseases and Associated Conditions
SFTPC
Lung Diseases and Associated Conditions
SFTPD
Lung Diseases and Associated Conditions
SMAD9
Lung Diseases and Associated Conditions
SOD3
Lung Diseases and Associated Conditions
STAT3
Lung Diseases and Associated Conditions
TERC
Lung Diseases and Associated Conditions
TERT
Lung Diseases and Associated Conditions
TGFB1
Lung Diseases and Associated Conditions
TNF
Lung Diseases and Associated Conditions
TOLLIP
Lung Diseases and Associated Conditions
TSC1
Lung Diseases and Associated Conditions
TSC2
Lung Diseases and Associated Conditions
Features
Specifications
Number of genes
83
Analyzed regions
DNA coding sequences (CDSs), exon-intron boundaries, 3'- and 5'-untranslated regions (UTRs) for CFTR gene
Limitations
he kit is not intended for detection of CNV, extended STR and homopolymer variants
Analyte
DNA isolated from peripheral blood, dry blood spots, or buccal epithelium (saliva)
Number of amplicons
1721 (2 pools)
Sequencing regions length, b.p
469 710
Biological identifier (BID)*
Included
Time to results
from 26 to 34 hours
Compatible platforms
Illumina and Thermo Fisher Scientific
Target enrichment
Multiplex PCR
Recommended number of reads per sample
860 000
Read length, b.p.
400 + 100 п.н.
Ordering information
VariFind™ PULM assay, 24 reactions
Cat. No. VF-PULM-24EN Contents: reagent kit for targeted amplification and library preparation, access to VariFind™ Software. Additionally required: VariFind MultiOligos platform-specific adapters and indexes.
VariFind™ PULM assay, 48 reactions
Cat. No. VF-PULM-48EN Contents: reagent kit for targeted amplification and library preparation, access to VariFind™ Software. Additionally required: VariFind MultiOligos platform-specific adapters and indexes.