EpigenDx provides Gene-Specific SNP Genotyping Analysis by using Pyrosequencing
Discover and genotype thousands of SNPs quickly and precisely to research quantitative and functional genomics in humans and animals.
Application
Point Mutation Analysis
Pyrosequencing technology is ideal for gene-specific SNP genotyping and allele quantification, because it offers the advantage of built-in quality controls with every reaction. It is capable of detecting mutations with di-, tri-, and tetra-allelic polymorphisms, along with single-base insertions and deletions. This service is best for analyzing multiple SNPs located in a mutation “hot spot” region.
What Is a Point Mutation?
A point mutation is a change in the DNA sequence that affects only a single nucleotide or a few nucleotides. To put it another way, at least one nucleotide is incorrect and only appear at a single point in the DNA sequence. A nucleotide might be inserted improperly during DNA replication or transcription. These errors can be made by enzymes like DNA polymerase or RNA polymerase.
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How It Works
Tell Us About Your Project
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Our Services
8004 | SNP Genotyping Analysis – Premium
Quantitative SNP Genotyping Analysis on submitted genomic DNA:
- Perform PCR
- Perform Pyrosequencing genotyping and allele quantification analysis
8006 | Assay Design – Standard
Design PCR and Pyrosequencing primers for DNA methylation, SNP genotyping, and allele specific expression analysis:
- Provide in silico designed primer sequencing information
8010 | SNP Genotyping analysis – Standard
Pyrosequencing SNP and mutation analysis on submitted genomic DNA:
- Perform Pyrosequencing analysis
8007 | Assay Design – Gold
Design PCR and Pyrosequencing primers for DNA methylation analysis, SNP genotyping, and allele specific expression analysis:
- Provide in silico designed primer information
- Perform Pyrosequencing analysis on submitted PCR product
8008 | Assay Design – Premium
Design and optimize PCR and Pyrosequencing primers for DNA methylation analysis, SNP genotyping, and allele specific expression analysis:
- Design PCR and Pyrosequencing primers
- Develop and optimize PCR condition
- Develop and optimize Pyrosequencing condition
- Perform assay validation
Single-Nucleotide Polymorphism
A single-nucleotide polymorphism (SNP) is sequence variation at the single-base level. They can be found in coding, non-coding, and intronic regions of genomes, and they may affect transcription factor binding, gene splicing, protein folding, and many other elements at the gene and transcript level.
SNP variations in the human genome are believed to be associated with diseases and malignancies. Many linkage and association studies have been performed to connect allelic variation to diseases. There are currently more than 50+ million SNPs listed by dbSNP (NCBI) in the human genome, trending 2-3 million new discoveries every year.
