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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 37 genes associated with amino 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 (AA) 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 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 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
AHCY
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
ALDH4A1
Hyperprolinemia, type II
AMT
Glycine encephalopathy
ARG1
Argininemia
ASL
Argininosuccinic aciduria
ASS1
Citrullinemia
BCKDHA
Maple syrup urine disease, type Ia
BCKDHB
Maple syrup urine disease, type Ib
CBS
Homocystinuria, B6-responsive and nonresponsive types
DBT
Maple syrup urine disease, type II
DLD
Dihydrolipoamide dehydrogenase deficiency
DNAJC12
Hyperphenylalaninemia, mild, non-BH4-deficient
FAH
Tyrosinemia, type I
GCH1
Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, Hyperphenylalaninemia, BH4-deficient, B
GCSH
Glycine encephalopathy
GLDC
Glycine encephalopathy
GNMT
Glycine N-methyltransferase deficiency
GSTZ1
Maleylacetoacetate isomerase deficiency
HPD
Tyrosinemia, type III
MAT1A
Methionine adenosyltransferase deficiency, autosomal recessive
MTHFR
Homocystinuria due to MTHFR deficiency
OAT
Gyrate atrophy of choroid and retina with or without ornithinemia
OTC
Ornithine transcarbamylase deficiency
PAH
Phenylketonuria
PC
Pyruvate carboxylase deficiency
PCBD1
Hyperphenylalaninemia, BH4-deficient, D
PPM1K
Maple syrup urine disease, mild variant
PRODH
Hyperprolinemia, type I
PTS
Hyperphenylalaninemia, BH4-deficient, A
QDPR
Hyperphenylalaninemia, BH4-deficient, C
SLC25A13
Citrullinemia, type II
SLC25A15
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC7A5
Phenylketonuria
SLC7A7
Lysinuric protein intolerance
SPR
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
TAT
Tyrosinemia, type II
UMPS
Orotic aciduria
Features
Specifications
Number of genes
37
Analyzed regions
Target regions include coding DNA sequences (CDSs)
Limitations and homopolymer variants
The kit is not intended for detection of CNV, extended STR
Analyte epithelium (saliva)
DNA isolated from peripheral blood, dry blood spots, or buccal
Number of amplicons
487 (2 pools)
Sequencing regions length, b.p.
136 114
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
243 500
Read length, b.p.
300 п.н.
Ordering information
VariFind™ METAB (AA) assay, 24 reactions
Cat. No. VF-MBAA-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 (AA) assay, 48 reactions
Cat. No. VF-MBAA-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
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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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