There are no limits with EpigenDx as your partner for Allele Specific Quantification.

Compared to other genotyping methods and platforms, pyrosequencing technology offers the unique advantage of providing quantitative measurements of every allele. This property makes Pyrosequencing the premier choice for allele-specific expression analysis, loss of heterozygosity, and studies involving mixed populations and sample pools.

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Quantitative Allele-Specific Expression and DNA Methylation Analysis

Pyrosequencing is able to quantitate the level of a nucleotide at a designated germ-line or somatic variant, including single nucleotide polymorphisms (SNPs). The amplification signal in Pyrosequencing is proportional to the amount of genetic material and nucleotide present in the order of the sequence.

SNPs within a gene of interest may be used to distinguish between the two genetic alleles and study their behavior in heterozygous individuals. As a result, it is possible to quantify allelic variation when the amplification signals are compared to reference peaks. Ideally, their sum would equal the signal level of the reference.

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Experts Since 2006

With over 15 years of experience, EpigenDx offers customizable DNA Methylation analysis for specific gene targets of your interest. We offer rapid turnaround time for clinical trials and molecular diagnosis as well as MGMT/Line-1/Foxp3 tests for HRM realtime PCR, Pyrosequencing for SNP genotyping, and targeted bisulfite NGS. Simply send us custom target regions with your genes of interest. We will design and validate a panel of assays suited to your research interests.

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Experts in DNA Methylation

Allelic Imbalance & Loss of Heterozygosity (LOH)

What causes allelic imbalance?

Loss of heterozygosity (LOH) is a common form of allelic imbalance by which a heterozygous somatic cell becomes homozygous because one of the two alleles gets lost. This form of chromosome instability is sufficient to provide selective growth advantage and has been recognized as a major cause of tumorigenesis.

Monoallelic Expression

Monoallelic expression can be understood in comparison to bi-allelic expression, the more prevalent form of gene expression (Figure 1). In most cases, both alleles of a gene are transcribed; this is known as bi-allelic expression. However, a minority of genes show monoallelic expression. In these cases, only one allele of a gene is expressed.

What is meant by loss of heterozygosity?

Loss of heterozygosity (LOH) is defined as the loss of one parent’s contribution to the cell, can be caused by direct deletion, deletion due to unbalanced rearrangements, gene conversion, mitotic recombination, or loss of a chromosome (monsomy).

PCR Method For Identification of EGFR

EGFR Mutation Lung Cancer

EGFR mutation detection by specific amplification of mutant alleles. Mutations in epidermal growth factor receptor have been discovered in association with some lung cancers.

What is EGFR-positive lung cancer?

EGFR stands for epidermal growth factor receptor & an EGFR mutation (or biomarker) can negatively affect how the EGFR protein functions. EGFR is a protein expressed on the surface of cells. It is most commonly found on cells on the skin, although it can be found elsewhere in the body.

FBN1 Gene

The FBN1 gene provides instructions for making a large protein called fibrillin-1. FBN1 gene mutation is associated with Marfan Syndrome & may be caused by defects or deletions (mutations) of the fibrillin-1 (FBN1) gene.

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EpigenDx – Your Perfect Partner for Allele Quantification Pyrosequencing