Genotyping Analysis

Scientific Overview

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.

SNP Genotyping Analysis
Standard | Premium

Assay Design
Standard | Gold | Premium

EpigenDx SNP Genotyping

Our Services

Item No. Service Description Price
8004

Premium

SNP Genotyping Analysis

Quantitative SNP Genotyping Analysis on submitted genomic DNA:

  • Perform PCR
  • Perform Pyrosequencing genotyping and allele quantification analysis
 Inquire
8010

STANDARD

SNP Genotyping Analysis

Pyrosequencing SNP and mutation analysis on submitted genomic DNA:

  • Perform Pyrosequencing analysis
 Inquire
8006

STANDARD

Assay Design

Design PCR and Pyrosequencing primers for DNA methylation, SNP genotyping, and allele specific expression analysis:

  • Provide in silico designed primer sequencing information
 Inquire
8007

Gold

Assay Design

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
 Inquire
8008

Premium

Assay Design

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
 Inquire

epigendx_Point Mutation-diagram

Image source: By Jonsta247 CC BY-SA 4.0, via Wikimedia Commons

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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