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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 20 genes associated with fatty 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 (FAO) 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.
⠀⠀⠀⠀Fatty 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 counselling for further diagnostics or reproductive manipulations.
⠀⠀⠀⠀Fatty 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 counselling for further diagnostics or reproductive manipulations.
Gene
Associated diseases
ACAD9
Mitochondrial complex I deficiency due to ACAD9 deficiency
ACADM
Deficiency of Acyl-CoA dehydrogenase, medium chain
ACADS
Deficiency of Acyl-CoA dehydrogenase, short-chain
ACADVL
VLCAD deficiency
CPT1A
CPT deficiency, hepatic, type IA
CPT1B
Carnitine palmitoyl transferase (L) deficiency
CPT2
CPT II deficiency
DECR1
Dienoyl reductase deficiency
ETFA
Glutaric acidemia IIA
ETFB
Glutaric acidemia IIB
ETFDH
Glutaric acidemia IIC
FLAD1
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
HADH
3-hydroxyacyl-CoA dehydrogenase deficiency, Hyperinsulinemic hypoglycemia, familial, 4
HADHA
Trifunctional protein deficiency
HADHB
Trifunctional protein deficiency
SLC22A5
Carnitine deficiency, systemic primary
SLC25A20
Carnitine-acylcarnitine translocase deficiency
SLC52A1
Glutaric acidemia type II
SLC52A2
Glutaric acidemia type II
SLC52A3
Glutaric acidemia type II
Features
Specifications
Number of genes
20
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
288 (2 pools)
Sequencing regions length, b.p.
79 757
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
144 000
Read length, b.p.
300 п.н.
Ordering information
VariFind™ METAB (FAO) assay, 24 reactions
Cat. No. VF-MBFAO-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 (FAO) assay, 48 reactions
Cat. No. VF-MBFAO-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
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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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