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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 the detection of genetic variants in 19 genes associated with lysosomal storage diseases using high-throughput sequencing
⠀⠀⠀⠀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™ LSDs 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
⠀⠀⠀⠀Lysosomal storage diseases (LSDs) are hereditary metabolic diseases characterised by the abnormal accumulation of various toxic substances in the cells of the body as a result of enzyme deficiency. Comprising about 50 already identified diseases, LSDs can affect various parts of the body, including the skeleton, skin, heart and central nervous system. The use of high-throughput sequencing allows the identification of already known and novel genetic variants (mutations) in all coding regions of linked genes. Detection of mutant variants in a child or the positive carrier status of parents allows genetic counseling for further diagnostics or reproductive manipulations.
Gene
Associated diseases
ARSA
Metachromatic leukodystrophy
GAA
Glycogen storage disease type II (Pompe disease)
GALC
Crabbe
GALNS
Mucopolysaccharidosis type IV A (Morchio A)
GBA
Gaucher
GLA
Fabri
GLB1
Mucopolysaccharidosis type IV B (Morchio B)
GLB1
GM1-gangliosidosis
GNS
Mucopolysaccharidosis type III D (Sanfilippo D)
HEXA
GM2-gangliosidosis type 2 (Tay-Sachs disease)
HEXB
GM2-gangliosidosis type 2 (Sandhoff disease)
HGSNAT
Mucopolysaccharidosis type III C (Sanfilippo C)
IDS
Mucopolysaccharidosis type II (Hunter)
IDUA
Mucopolysaccharidosis type I (Sanfilippo-Sheippo)
LIPA
Lysosomal acid lipase deficiency (Wolman disease)
NAGLU
Mucopolysaccharidosis type III B (Sanfilippo B)
NPC1
Niemann-Pick disease type C1/D
NPC2
Niemann-Pick disease type C2
SGSH
Mucopolysaccharidosis type III A (Sanfilippo A)
SMPD1
Niemann-Pick disease type A/B
Features
Specifications
Number of genes
20
Analyzed regions
Target regions include coding DNA sequences (CDSs)
Limitations
The kit is not designed to detect CNV (except for GALC 30-kb DEL and HEXB 16-kb DEL.), extended STR and homopolymer variants.
Analyte
DNA isolated from peripheral blood, dry blood spots, or buccal epithelium (saliva)
Number of amplicons
323
Sequencing regions length, b.p.
84 994
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
323 000
Read length, b.p.
300 п.н.
Ordering information
VariFind™ LSDs assay kit, 24 reactions
Cat.No. VF-LSDS-24RU
Contents: Reagent kit for targeted amplification and library preparation, access to VariFind™ Software.
Required in addition: VariFind™ MultiOligos platform-specific adapters and indices.
Contents: Reagent kit for targeted amplification and library preparation, access to VariFind™ Software.
Required in addition: VariFind™ MultiOligos platform-specific adapters and indices.
VariFind™ LSDs assay , 48 reactions
Cat.No.VF-LSDS-48RU
Contents: Reagent kit for targeted amplification and library preparation, access to VariFind™ Software.
Required in addition: VariFind™ MultiOligos platform-specific adapters and indices.
Contents: Reagent kit for targeted amplification and library preparation, access to VariFind™ Software.
Required in addition: VariFind™ MultiOligos platform-specific adapters and indices.
Related products
A systematic approach to genomic research
Czech Republic, 252 63 Roztoky, Felklova 2014
info@parseq.pro
info@parseq.pro
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