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Recent Webinars

Full PMS2 at Invitae: cheaper, faster, better

Federico Monzon, MD, FCAP Dan Kvitek, PhD
August 18, 2015
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Sequencing the PMS2 gene is difficult. Accurately analyzing complex portions of this gene for sequence and del/dup variants usually requires expensive and complex lab techniques. We have developed a method for full PMS2 sequencing and deletion/duplication analysis that offers both the same high quality and the same affordable price you’ve come to expect from Invitae.

Our new, highly accurate method covers both PMS2 and its pseudogene, PMS2CL. The trick lies in evaluating all reads from both genes as if they belonged only to PMS2, and then using a bioinformatic screen to call variants across this region. In cases where no variants are found, the sample can continue through the testing process. In cases with positive screen findings, we use alternate technologies to determine whether the variant is in PMS2 or PMS2CL.

Join our webinar to learn about Invitae’s innovative approach to PMS2 exons 12-15, including how we thoroughly validated this process.