Analysis of DNA methylation, detection of mutations and SNPs with high sensitivity and built-in quality control

PyroMark MD is used for the detection of mutations and SNPs in a variety of clinical applications, and the analysis of DNA methylation, polyploid plant genomes and pharmacogenetic markers.

Capable of genotyping with high sensitivity virtually any mutation or SNP, easily resolving contiguous mutations, performing InDel analysis, and quantitatively measuring alleles in haploid and polyploid genomes, PyroMark MD is ideal for clinical research and genetics labs demanding an accurate result with minimal reagent consumption, thus lowering the cost per test.

Sample preparation for Pyrosequencing requires only 10 minutes. Up to 96 samples can be prepared and analysed in parallel.

PyroMark MD is a highly sensitive and quantitative genetic analysis system based on Pyrosequencing technology. Pyrosequencing stands out among rapid genetic analysis methods in that it always generates true sequence information. This gives per-sample quality control in every run, from which the software makes an automatic quality assessment. Results are therefore unambiguous and eliminate the need to repeat assays or run separate controls. Each result, called a Pyrogram®, is a quantitative representation of the samples’ nucleotide base sequence. Every Pyrogram shows determined polymorphic position and is ideal for quantitative analysis.

The High Sensitivity (HS) light detection system enables small amounts of sample DNA to be analyzed (typically 5-10 µl of PCR product). Consequently, only small volumes of reagents and nucleotides are required, thereby reducing running costs.

Advanced capabilities include automatic multiplex genotyping of SNPs and other mutations such as insertion/deletions (InDels), allele frequency quantification and analysis of multiple SNPs on a single strand.

Pyrosequencing™ technology offers greater than 99% reproducibility and greater than 99.997% accuracy in SNP scoring, measured in an independent test.

Automated Transfer of 96-well Plates

PyroMark MD has a built-in robotic mechanism to transfer up to 10 96-well plates for unattended operation.

SNP and Mutation Analysis

Automatic simplex, duplex and multiplex genotyping of polymorphisms such as point mutations, InDels and SNPs.

Multiple SNPs from a short stretch of DNA and tri- and tetra allelic polymorphisms can be analyzed, as can InDels and other mutations. The polymorphic position is presented along with the surrounding sequence, which acts as the per-sample quality control.

SNP Allele Frequency Quantification

Once polymorphisms are identified, frequency of alleles can be quantified. Alleles from both pooled genomic and single mixed population samples can be quantified. Allele frequency quantification of multiple SNPs, tri- and tetra allelic SNPs and InDels can be measured.

The resulting quantitative data enables the assessment of mixed genotypes. The highly quantitative data from Pyrosequencing is a facilitator of gene pooling studies.

Such data are valuable or essential to experimental design when working with mixed cell populations such as cancerous tissue, or the analysis of multiple gene copies and polyploid genomes.