Lynch Syndrome and COLARIS Testing
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1 Lynch Syndrome and COLARIS Testing
2 Webinar Objectives Review of Lynch syndrome as a multi-gene disorder COLARIS Enhancements Technical Overview COLARIS test offerings Test development and validation process for PMS2 gene Methodology used for COLARIS testing How to order tailored testing Review sample test results Variant classification program The Myriad Advantage
3 Lynch Syndrome: a Multi-Gene Disorder
4 Prevalence of Lynch Syndrome Mutations ~1% Up to 15% Up to 15% 70-80% MLH1 and MSH2 MSH6 PMS2 EPCAM Genet Med. 2009; 11: Gastroenterology 2008; 135: Human Mutation 2011;; 32:
5 Lynch Syndrome Cancer Risks Gene Colorectal Cancer Risk Endometrial Cancer Risk MLH1 Up to 82% Up to 60% MSH2 Up to 82% Up to 60% EPCAM (TACSTD1) Up to 82% Up to 60% MSH6 Men: up to 69% Women: up to 30% Up to 71% PMS2 Up to 20% Up to 15%
6 COLARIS Test Offerings
7 COLARIS Test Offerings COLARIS: Full sequence MLH1, MSH2, MSH6, and PMS2 Large rearrangement testing for MLH1, MSH2, MSH6, PMS2 and EPCAM Note: The PMS2 gene will be reported in the same result packet, but on a separate page COLARIS Update: PMS2 sequencing and large rearrangement testing for PMS2, MSH6 and EPCAM COLARIS Tailored Testing: Specific genes in preferred combinations
8 COLARIS Test Offerings Single gene testing is available Able to perform single gene analysis for MLH1, MSH2, MSH6, PMS2 and EPCAM Write in the requested gene on the Gene Specific line of the test order form
9 COLARIS Reflex Testing Reflex testing available Can order multiple single gene reflex orders based on IHC on the Gene Specific line Ex: Can order MSH2 Analysis with reflex to MSH6 Analysis for patient with loss of MSH2 and MSH6 on IHC testing Can order concurrent or reflex testing to other tests (ex: COLARIS AP) by writing in the specific request on the Other line
10 PMS2 Test Development and Validation
11 PMS2 Gene Overview Analysis of PMS2 is complicated by the presence of pseudogenes that may interfere with standard genomic sequencing. All but 4 of 15 exons in the gene have regions of sequence homology elsewhere in the genome.
12 PMS2 Test Development Myriad s PMS2 sequencing assay includes multiple control pathways to ensure an accurate test result. The assay controls for: incidental amplification of pseudogenes rather than the PMS2 coding sequence allelic drop out gene conversion sample contamination PMS2 large rearrangement testing will be performed using MLPA technology
13 PMS2 Test Validation PMS2 assay validated for clinical use on a set of more than 300 samples Set included known positives and known negatives for PMS2 sequence variants and large rearrangements. PMS2 assay validated for both blood and buccal samples
14 PMS2 Laboratory Process Automated laboratory testing platform and data analysis system leads to Consistently short turnaround time High level of quality control Low rate of sample re-draw Confirmation of all positive results
15 COLARIS Test Methodology
16 Test Methodology: Sequencing Full sequencing of: MLH1 MSH2 MSH6 PMS2 Sequencing is performed in forward and reverse directions of all exons 20 base pairs proximal to the 5 end 10 base pairs distal to the 3 end of each exon
17 Testing Methodology: CART Quantitative multiplex PCR assay developed by Myriad to detect large rearrangements in MLH1 and MSH2 Primers span promoters and coding exons of MLH1/MSH2 Each exon contains two target amplicons for redundancy and increased accuracy Each rearrangement is confirmed Automated, computerized analysis Fully validated and clinically available since May 2008
18 Testing Methodology: MLPA Multiplex Ligation dependant Probe Amplification Myriad will use MLPA to report LR in PMS2, MSH6, and EPCAM PMS2: due to potential for pseudogene interference, exons 3, 4 and not analyzed for LR EPCAM: testing will include the 3 UTR MLPA run as a confirmatory test for MLH1 and MSH2
19 Test Request Form and COLARIS Report Examples
20 Reflex to COLARIS AP* X X Reflex to COLARIS AP* *Note: This is only available for blood samples
21 Single Gene Test Order X PMS2 Analysis
22 Multiple Gene Reflex Order X MSH2 analysis reflex to MSH6 Analysis
23 Result Examples: COLARIS
24 Result Examples: COLARIS
25 Result Examples: COLARIS EPCAM Positive
26 Result Examples: COLARIS Update
27 COLARIS Variant Classification Program
28 Variant Classification Program (VCP) Program includes variants in MLH1, MSH2, MSH6, EPCAM and PMS2 For individuals tested for COLARIS over past year, the uncertain variant rate was 7.8% and the favor polymorphism rate was 1.3% For more information about our VCP please contact Medical Services at or
29 Myriad Advantage
30 Myriad Advantage Testing methodology PMS2 test development & validation Variant classification program Ordering process
31 Medical Service Support 35 highly trained medical specialists Professional Support Specialists Regional Medical Specialists Available to assist with: Clinical or technical questions Case reviews Results interpretation
32 Customer Service Support Myriad offers a wide array of customer service support unparalleled to any other diagnostic laboratory 14-day Turnaround Time Streamlined reimbursement process Expertise in reimbursement logistics Interest-free payment options Financial assistance program Electronic results through ResultsNow
33 Summary COLARIS enhancements launch today! Test results you can trust Proven testing technology Flexible ordering process Resources to enhance your testing experience Medical service support Customer service support
34 Frequently Asked Questions What is the cost for COLARIS? Will this change impact insurance coverage for COLARIS? How will Medicare submissions be handled? Will it affect my reporting time?
35 Frequently Asked Questions When will new COLARIS kits and Test Request Forms (TRFs) be distributed? Can I order the COLARIS Update test if I don t have the new TRF?
36 Thank you for your time and attention Any questions regarding COLARIS Please contact Medical Services at , X 3850 or helpmed@myriad.com or your local Regional Medical Specialist
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