The Myriad Advantage

Myriad Genetic Laboratories recognizes that you have a choice in which laboratory you use for Lynch syndrome testing. Our mission is to ensure that we deliver an accurate, on-time result, with access to resources that will help enhance you and your patients’ testing experience.  Below are the reasons why Myriad should be considered as your Lynch syndrome lab of choice.

COLARIS® Testing Methodology:

With COLARIS, you will get industry-leading testing technology:

  • Sequence analysis of MLH1MSH2MSH6, PMS2and MYH
  • Large rearrangement analysis by microarray analysis for MLH1, MSH2, MSH6, MYH and the 3’UTR of EPCAM
  • Large rearrangement analysis by MLPA for PMS2

MYH analysis included in COLARIS:

  • Myriad’s MYH gene analysis includes full sequencing and large rearrangement analysis.
  • MYH-associated polyposis (MAP) accounts for approximately 1% of all colorectal cancers and up to 3% of colorectal cancers that are diagnosed before age 50.
  • Patientswho have MAP may develop colorectal cancer even if they do not have a history of colon polyposis.
  • Although MYH is not a Lynch syndrome gene, some patients with MAP have a clinical presentation that is similar to Lynch syndrome.

PMS2 Test Development and Validation:

  • Analysis of PMS2 is complicated by multiple pseudogenes that may interfere with standard genomic sequencing methods which could produce a false negative or false positive result.  Myriad has taken extensive steps to develop a PMS2 sequencing test that avoids pseudogene interference.  This is accomplished by developing an assay that includes multiple control pathways alerting us to the potential amplification of pseudogenes rather than the PMS2coding sequence, allelic drop out, gene conversion events or contamination.  These controls create a high level of confidence that Myriad is providing you an accurate PMS2 result.
  • As with all of our clinical tests, we employ an extensive automated laboratory testing platform and data analysis system for the PMS2 gene.  These features result in a consistently short turnaround time, a high level of quality control due to our automated sample tracking system and a low rate of redraw.
  • The PMS2 testing assay has been validated for clinical use on a set of more than 300 DNA samples from previously tested individuals with known positives and known negatives for PMS2 sequence variants and large rearrangements.
  • The PMS2 assay and COLARIS testing have been validated for both blood and buccal mouthwash samples.

Variant Classification Program (VCP):

  • Myriad strives to do more than any other clinical genetic testing laboratory to proactively gather and analyze data related to the clinical classification of genetic variants, including pedigree analysis, variant or full sequencing rearrangement testing at no charge on select individuals and multiple levels of evidence for reclassification.  In addition, when a variant is reclassified, Myriad notifies the designated Healthcare Provider for every patient with that variant.
  • Myriad’s VCP will extend to include all of Lynch syndrome testing available at Myriad including variants in MLH1MSH2MSH6EPCAM and PMS2.  For individuals tested for COLARIS over the past year, the uncertain variant rate was only 7.8% and the favor polymorphism rate was 1.3%.  We anticipate this rate will temporarily increase with the addition of PMS2 testing.