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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 24 genes associated with various types of sugar intolerance 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™ Diabetes 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
⠀⠀⠀⠀Glucose metabolism disorders are the most common type of carbohydrate metabolism pathology. However, the heterogeneous causes of these disorders include both environmental and genetic factors. Maturity-onset diabetes of the young (MODY), which accounts for 1% to 5% of all diabetes cases, typically occurs before the age of 25.
⠀⠀⠀⠀The VariFind™ Diabetes assay detects markers of maturity-onset diabetes of the young (MODY) with oligogenic inheritance for subsequent diagnosis and genetic counselling.
⠀⠀⠀⠀The VariFind™ Diabetes assay detects markers of maturity-onset diabetes of the young (MODY) with oligogenic inheritance for subsequent diagnosis and genetic counselling.
Gene
Related diseases
ABCC8
Diabetes and related conditions, including MODY diabetes
BLK
Diabetes and related conditions, including MODY diabetes
CEL
Diabetes and related conditions, including MODY diabetes
FOXP3
Diabetes and related conditions, including MODY diabetes
G6PC2
Diabetes and related conditions, including MODY diabetes
GCK
Diabetes and related conditions, including MODY diabetes
GLIS3
Diabetes and related conditions, including MODY diabetes
GLUD1
Diabetes and related conditions, including MODY diabetes
HADH
Diabetes and related conditions, including MODY diabetes
HNF1A
Diabetes and related conditions, including MODY diabetes
HNF1B
Diabetes and related conditions, including MODY diabetes
HNF4A
Diabetes and related conditions, including MODY diabetes
INS
Diabetes and related conditions, including MODY diabetes
INSR
Diabetes and related conditions, including MODY diabetes
KCNJ11
Diabetes and related conditions, including MODY diabetes
KLF11
Diabetes and related conditions, including MODY diabetes
NEUROD1
Diabetes and related conditions, including MODY diabetes
NEUROG3
Diabetes and related conditions, including MODY diabetes
NKX2-2
Diabetes and related conditions, including MODY diabetes
PAX4
Diabetes and related conditions, including MODY diabetes
PDX1
Diabetes and related conditions, including MODY diabetes
RFX6
Diabetes and related conditions, including MODY diabetes
SLC16A1
Diabetes and related conditions, including MODY diabetes
ZFP57
Diabetes and related conditions, including MODY diabetes
Features
Specifications
Number of genes
24
Analyzed regions genes and hotspots for othe
Target regions include coding DNA sequences (CDSs) for 12 genes
Limitations and homopolymer variants
The kit is not intended for detection of CNV, extended STR
Analyte
DNA isolated from peripheral blood or saliva
Number of amplicons
386 (2 pools)
Sequencing regions length, b.p.
104 302
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
193 000
Read length, b.p.
300 п.н.
Ordering information
VariFind™ Diabetes assay, 24 reactions
Cat. No. VF-DIAB-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™ Diabetes assay, 48 reactions
Cat. No. VF-DIAB-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
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