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Optional 2-Platform, Mutation-Validation Assay Packages

In addition to DNA sequencing, SeqWright offers a variety of highly reliable Next-Generation sequencing platforms for the rapid and widespread identification and monitoring of SNP’s from any number of samples.  QPCR is also available for SNP genotyping and allelic discrimination assays.  However, DNA sequencing remains the Gold-Standard for SNP Identification and BioMarker Monitoring.  SeqWright offers these 2-assay approaches as an integrated package for high-confidence data suitable for any publication. 

Assay Testing Against the HapMap Samples

If a new mutation has been discovered in a patient panel, a valuable next step approach is to screen the mutation against the HapMap samples, available from the Coriell Institute, for any positive haplotype associations that may contribute to a particular disease or drug response.

• HapMap panels are commercially available.
• SeqWright will provide consultation about HapMap panel appropriateness.
• SeqWright will screen for the new mutations.

Tumor Samples & Heterogeneous Mixtures*

SeqWright is experienced in detecting low-frequency mutations in uneven mixtures such as tumor samples and pooled DNA, using PCR and sequencing techniques.

• Detection of low-frequency mutations comprising as low as 5% of the population without subcloning.
• Mixtures with mutations below 5% can be detected using subcloning strategies.
• DNA extraction from paraffin-embedded tissue.
• Detection and de-convolution of hetero-indel profiles**.
• Whole Genome Amplification (WGA) for low sample quantities (see below).
• CLIA certified for handling patient samples.
• 21 CFR 58 and 21 CFR 11 compliant.

*Not for diagnostic purposes.
**Heterozygote insertion-deletions (indels) are detected by a data frame-shift and the loss of signal quality at the mutation boundary. The 5% threshold applies. The de-convoluted hetero-indel peak profiles are included in the final report.

DNA Amplification by WGA

Whether limited by very small sample amounts or needing to maintain a perpetual supply of DNA belonging to a specific genotype, SeqWright offers a whole genome amplification (WGA) service for both increasing and preserving critical DNA samples for future studies. The method has been validated for both Short Tandem Repeat (STR) and SNP genotyping.