Pgx testing how the dna is sequenced

Richards S et al. Variants are filtered and annotated using VarSeq www. If your pharmacogenomic test results suggest you may not have a good response to a medication, your family members may have a similar response. Ship at least two T25 flasks of confluent cells. Registered Users. Recent Posts. The PGxome assesses almost all genes from the human genome including coding regions and adjacent introns. The inclusion of copy number variant CNV calling should increase diagnostic rates.

DNA Sequencing Companies

Additionally, patients have the option of receiving results of actionable variants within 15 genes known to influence prescription drug response. We cannot be certain that the reference sequences are correct. Because new Mendelian disease genes are being continuously identified and because our ability to interpret sequence variants is steadily improving, it is important to consider reanalysis and reinterpretation of exome data in future. Some states have laws in this area.

In these instances, the CNV will not be included on the report. Reportable genes were selected based on evidence supporting gene-drug interactions https: The need for pharmacogenomics testing is determined on an individual basis.

All sequence variants in appropriate gene regions will be detected and interpreted, but only Pathogenic and Likely Pathogenic variants will be included in the test report.

Drug-Gene Testing

The PGxome test detects most deletions and duplications including intragenic CNVs and large cytogenetic events; however aberrations in a small percentage of regions may not be accurately detected due to sequence paralogy e.

Drug-gene testing is also called pharmacogenomics, or pharmacogenetics. Specimen Type: The following quality control metrics are generally achieved: However, we take no responsibility for any specimen labeling errors that occur before the specimen arrives at PreventionGenetics. Why is PGx Testing Important?

A small blood or saliva sample can help determine: