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LynchSyndromeTrue 

Genetic Test for Lynch Syndrome

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What is LynchSyndromeTrue?

LynchSyndromeTrue is a hereditary cancer panel designed for individuals suspected to be at-risk for Lynch (hereditary non-polyposis colon cancer or HNPCC) syndrome. Testing includes full sequencing of MLH1, MSH2, MSH6, and PMS2. Testing also includes deletion/duplication analysis for these four genes as well as the EPCAM gene.

Why choose LynchSyndromeTrue?

  • 2-3 week turnaround time
  • Both blood and saliva accepted
  • Patient-friendly billing policy
  • Option to reflex to larger 14-gene panel
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TEST SPECIFICATIONS

LynchSyndromeTrue analyzes the coding and flanking regions (+/- 20 bp) of 4 genes associated with Lynch Syndrome (MLH1, MSH2, MSH6, and PMS2) by next-generation sequencing-based (NGS) and Sanger confirmation of reported gene variants. Sanger fill-in is used for all genes in areas of low coverage, which is defined as a read depth of less than 25x. Gross deletions and duplications in the aforementioned 4 genes and EPCAM are identified by microarray analysis and multiplex ligation-dependent probe amplification (MLPA). Suspected deletions in exons 13-15 of PMS2 are confirmed with long range PCR to exclude the pseudogene signal.

ACCEPTABLE SAMPLE TYPES

Saliva

The saliva sample collection kit includes one saliva collection device. Fill each tube up to the notch in the collection device.

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Blood

The blood sample collection kit includes one 4ml lavender blood tube.

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For more information about the sample collection kits listed above, please contact our client services department at (877) 505-7374 or clientservices@pathway.com. To order sample collection kits, complete our online order form.

CLINICAL GUIDELINES

Who Should Consider Testing?

  • History of early onset colorectal or endometrial cancer (<50 yrs)

  • Two or more associated cancers* in the same individual

  •  History of colon adenomas under 50 year of age

  • Multiple family members, on the same side of the family, with the same type of cancer or associated cancers*

  • Abnormal MSI and/or IHC testing

    *Associated cancers are listed in the table below.

 

REFERENCES

  1. Jasperson KW, Touhy TM, Neklason DW, Burt RW. Hereditary and familial colon cancer. Gastroenterology. 2010; 138(6),2044–2058, PMID 20420945.
  2. Sameer AS. (2013). Colorectal cancer: molecular mutations and polymorphisms. Frontiers in oncology. 3 (114), 1-8, PMID 23717813
  3. Kohlmann W, Gruber SB.Lynch Syndrome. 2004 Dec 5 [Updated 2014 May 22]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1211/.
  4. Provenzale D, Jasperson K, Ahnen, DJ, et al. NCCN Clinical Practice Guidelines in Oncology®: Genetic/Familial High-Risk Assessment: Colorectal. V 2.2014. Available at http://www.nccn.org.