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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 31 genes associated with organic acid 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 (AO) 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.
⠀⠀⠀⠀ Organic acid 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 counseling for further diagnostics or reproductive manipulations.
⠀⠀⠀⠀ Organic acid 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 counseling for further diagnostics or reproductive manipulations.
Gene
Associated diseases
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
ACADSB
2-methylbutyrylglycinuria (short-chain acyl-CoA dehydrogenase deficiency)
ACAT1
Alpha-methylacetoacetic aciduria
AUH
3-methylglutaconous aciduria, type I
BTD
Biotinidase deficiency
DNAJC19
3-methylglutaconium aciduria, type V
ETHE1
Ethylmalonic encephalopathy
GCDH
Glutaric aciduria type 1
HIBCH
Deficiency of 3-hydroxyisobutryl-CoA hydrolase
HLCS
Holocarboxylase synthetase deficiency
HMGCL
Hydroxy-3-methylglutaryl-CoA synthase-2 deficiency
HMGCS1
3-hydroxy-3-methylglutaric aciduria
HMGCS2
3-hydroxy-3-methylglutaric aciduria
IVD
Isovalerian acidemia
LMBRD1
Methylmalonic aciduria with homocystinuria, type cblF
MCCC1
Deficiency of 3-methylcrotonyl-CoA carboxylase 1
MCCC2
Deficiency of 3-methylcrotonyl-CoA carboxylase 2
MLYCD
Malonyl-CoA decarboxylase deficiency
MMAA
Methylmalonic aciduria, type cblA
MMAB
Methylmalonic aciduria, type cblB
MMACHC
Methylmalonic aciduria with homocystinuria, type cblC
MMADHC
Methylmalonic aciduria with homocystinuria, type cblD
MUT
Classic methylmalonic aciduria
OPA3
3-methylglutaconous aciduria, type III
PCCB, PCCA
Propionic acidemia
SERAC1
3-methylglutaconous aciduria with deafness, encephalopathy, and Lee-like syndrome
SUCLA2
Mitochondrial DNA depletion syndrome, type 5 (encephalomyopathic with or without methylmalonic aciduria)
SUGCT
Glutaric aciduria type 3
TAZ
Bart's syndrome
TMEM70
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Features
Specifications
Number of genes
31
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
403 (2 pools)
Sequencing regions length, b.p.
114 977
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
201 500
Read length, b.p.
300 п.н.
Ordering information
VariFind™ METAB (AO) assay kit, 24 reactions
Cat.No.VF-MBAO-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™ METAB (AO) assay kit, 48 reactions
Cat.No. VF-MBAO-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.
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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