Enter the series of the set you purchased
It is indicated on the front side of the box
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 34 genes associated with amino acid and vitamin B metabolism disorders 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 (AAVB) 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
⠀⠀⠀⠀Although hundreds of congenital metabolic disorders have been described to date, most of these are rare. However, taken together, metabolic disorders account for a significant proportion of morbidity and mortality from genetic disorders. According to conservative studies, the incidence of metabolic disorders is approximately 1 in every 2500 births, comprising 10% of all monogenic disorders in children. Moreover, different alleles of genes encoding enzymes can alter the risk factor associated with many common diseases such as diabetes, heart disease, stroke, and cancer.
⠀⠀⠀⠀Amino acid and vitamin B metabolism disorders are considered rare hereditary diseases. Along with the possible pathogenic genetic variants (mutations) that cause them, however, they remain poorly studied. 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 counselling for further diagnostics or reproductive manipulations.
⠀⠀⠀⠀Amino acid and vitamin B metabolism disorders are considered rare hereditary diseases. Along with the possible pathogenic genetic variants (mutations) that cause them, however, they remain poorly studied. 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 counselling for further diagnostics or reproductive manipulations.
Gene
Associated diseases
ABCD4
Methylmalonic aciduria and homocystinuria, cblJ type
ACSF3
Combined malonic and methylmalonic aciduria
AMN
Megaloblastic anemia-1, Norwegian type
CBS
Homocystinuria, B6-responsive and nonresponsive types
CD320
Methylmalonic aciduria, transient, due to transcobalamin receptor defect
CUBN
Megaloblastic anemia-1, Finnish type
DHFR
Megaloblastic anemia due to dihydrofolate reductase deficiency
FUT2
Vitamin B12 plasma level QTL1
GIF
Intrinsic factor deficiency
HCFC1
Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )
LMBRD1
Methylmalonic aciduria and homocystinuria, cblF type
MAT1A
Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency
MCEE
Methylmalonyl-CoA epimerase deficiency
MMAA
Methylmalonic aciduria, vitamin B12-responsive
MMACHC
Methylmalonic aciduria and homocystinuria, cblC type
MMADHC
Methylmalonic aciduria and homocystinuria, cblD type
MTHFD1
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
MTHFR
Homocystinuria due to MTHFR deficiency
MTR
Homocystinuria-megaloblastic anemia, cblG complementation type
MTRR
Homocystinuria-megaloblastic anemia, cbl E type
MUT
Methylmalonic aciduria, mut(0) type
PCCA
Propionicacidemia
PCCB
Propionicacidemia
PRDX1
Methylmalonic aciduria and homocystinuria, cblC type, digenic
SLC19A2
Thiamine-responsive megaloblastic anemia syndrome
SLC46A1
Folate malabsorption, hereditary
SUCLA2
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
SUCLG1
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
TCN1
Transcobalamin deficiency
TCN2
Transcobalamin II deficiency
ММAВ
Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementatio type
Features
Specifications
Number of genes
34
Analyzed regions
Target regions include coding DNA sequences (CDSs)
Limitations
The 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
562 (2 pools)
Sequencing regions length, b.p.
157 769
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
281 000
Read length, b.p.
300 п.н.
Ordering information
VariFind™ METAB (AAVB) assay, 24 reactions
Cat. No. VF-MBAAVB-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 (AAVB) assay, 48 reactions
Cat. No. VF-MBAAVB-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
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
Notice about the use and storage of cookies
Our website uses cookies and other technical visitor data collection services and data storage facilities (IP address, location data, etc.) to make the website work and improve the customer experience. You should read the PARSEQ LAB LLC Cookie Policy and the PARSEQ LAB LLC Policy on Processing and Protection of Personal Data before using our website. By continuing to use our website, you consent to the use of these technologies and to the storage of cookies on your device, the PARSEQ LAB LLC Cookie Policy and the Privacy Policy.
ACCEPT STRICTLY NECESSARY (TECHNICAL) COOKIES
LEAVE THE SITE
ACCEPT ALL COOKIES
If you choose to opt out of using and storing functionality and marketing cookies and data in local storage on your device or withdraw your consent at a later date, some features of our website may not be available to you or may be available to a limited extent, and this may affect the user experience on the website.
ACCEPT ALL
SAVE YOUR SETTINGS
We use these cookies to be able to display content and ads tailored to you on web and social media pages. In order to promote our products, gather statistics and conduct research, the website may place ads on other sites that will be visible to you. Marketing (advertising) cookies are used to tailor offers to you and your interests. They are also used to prevent the same ads from appearing too often.
Marketing (advertising) cookies
These cookies help us keep track of visitor statistics and research traffic sources so that we can evaluate and improve the effectiveness and usability of our site for you. They allow us to find out which pages are the most popular or least interesting for users, and how visitors move around the site. All information collected by these cookies is aggregated and therefore anonymous. If you prohibit the use and storage of these cookies, we will not be able to track website traffic and monitor its performance.
Functionality cookies
These cookies ensure the smooth operation of the website, its functions and make our website technically available to you, they cannot be disabled. They are usually applied in response to actions you take, such as navigating a web page, setting privacy settings, or filling out any forms. Without these web technologies and cookies, our website will not work.
Strictly necessary (technical) cookies: