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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 4 genes associated with galactosaemia and hyperammonaemia 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™ METAB (GH) 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
⠀⠀⠀⠀Galactosaemia, which is an autosomal recessive hereditary galactose metabolism disorder, develops due to a deficiency of galactose-1-phosphaturidyl transferase.
⠀⠀⠀⠀Hyperammonaemia is a metabolic condition characterised by increased levels of ammonia in the blood.
⠀⠀⠀⠀ Galactosaemia and hyperammonaemia are rare hereditary diseases caused by a large number of different pathogenic genetic variants (mutations). The use of high-throughput sequencing allows the identification of already known and novel variants 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.
⠀⠀⠀⠀Hyperammonaemia is a metabolic condition characterised by increased levels of ammonia in the blood.
⠀⠀⠀⠀ Galactosaemia and hyperammonaemia are rare hereditary diseases caused by a large number of different pathogenic genetic variants (mutations). The use of high-throughput sequencing allows the identification of already known and novel variants 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
BTD
Biotinidase deficiency
GALE
Galactose epimerase deficiency
GALK1
Galactokinase deficiency with cataracts
GALT
Galactosemia
Features
Specifications
Number of genes
4
Analyzed regions
Target regions include coding DNA sequences (CDSs)
Limitations
Набор не предназначен для детекции CNV (за исключением c.377+53_1059+87del), протяженных STR и гомополимерных вариантов.
Analyte
DNA isolated from peripheral blood, dry blood spots, or buccal epithelium (saliva)
Number of amplicons
57 (2pool
Sequencing regions length, b.p.
15 472
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
28 500
Read length, b.p.
300 п.н.
Ordering information
VariFind™ METAB (GH) assay, 24 reactions
Cat. No. VF-MBGH-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™ METAB (GH) assay, 48 reactions
Cat. No. VF-MBGH-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.
Enter the lot number
It is listed on the front of the box
If you do not have a kit but would like to get a manual, please contact us
Related products
VariFind™ MultiOligos IT Platform
Barcoded adapter and universal primer kits for Thermo Fisher Scientific platforms in test tubes. Compatible with all VariFind™ test systems
A systematic approach to genomic research
Czech Republic, 252 63 Roztoky, Felklova 2014
info@parseq.pro
info@parseq.pro
Enter the lot number
(It is listed on the front of the box)
If you do not have a kit but would like to get a manual, please contact us
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