• Methylation Assays •
Insertions /
Deletions •
Mutations •
•
Bacterial identification and
analysis
•
Drug
Resistance
•
•
SNP
Services •
Detection of unknown sequence
variants
•
• Clinical RUO Tests
•
Quantification of
alleles
• Virus Detection
•
Commercial PYRO-sequencing on PyroMark Q24 and Q96 platforms
Pyrosequencing (unlike Sanger sequencing) reports
the ratio of cytosine to thymine at each CpG site analyzed, which reflects the proportion of
methylated DNA.
Assay design is flexible, and can be performed in either orientation and on
either strand. In addition, contiguous CpG sites are analyzed independently and within the same
run, which enables assessment of sequence-wide methylation patterns while retaining details of
position-specific methylation.
Insertions/Deletions and SNP Services
Because of the flexibility of primer placement in pyrosequencing reactions, virtually all
genetic markers can be assayed. Alleles of variable loci are accurately quantified, and heterozygosity is easily
resolved.
Because pyrosequencing delivers sequence information, various types of genetic variation can be
evaluated: insertions and deletions, SNPs, single tandem repeats, and variable gene copy number. It is also
possible to assay several contiguous sequence variants in a single run.
Unlike hybridization techniques, pyrosequencing allows identification of a large number of
species using a single conserved sequencing primer.
Depending on assay design, pyrosequencing can be used to discriminate microbial species, types, and strains, or
detect genetic mutations that confer resistance to antibiotics or antiviral drugs.
A growing number of assays specifically target commonly studied pathogenic species and strains of bacteria,
viruses, and fungi.
Detecting mutations is important in cancer management. Among several
available detection methods, pyrosequencing is one of the most versatile. KRAS was one of the first genes found to
be mutated in human cancer. Pyrosequencing provided sufficient analytical sensitivity and specificity to
assess the mutation status in routine formalin-fixed CRC samples, even in tissues with low tumor cell content.
Researchers were able to use commercially available pyrosequencing technologies (PyroMark Q24
KRAS and Q24 KRAS v2.0) to assess the mutation status for codon 61 in 96.8% of the cases.
Bacterial drug resistance markers often include heterogenic variation among
several gene copies, which account for different drug resistance patterns.
Pyrosequencing reliably reports the actual sequence of the locus. Thus, a single assay can detect a range of
possible mutations including new and unexpected changes.
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