Lynch Syndrome
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000591149.2
- Last updated: 2022-04-10
- Annual Review past due read more
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Colorectal cancer, hereditary nonpolyposis, type 2
Offered by Clariti Diagnostics Laboratories LLC
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Lynch Syndrome (Lynch Syndrome)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Predictive, Prognostic
Click Indication tab for more information.
Fill test requisition form and submit with saliva or buccal swab specimen
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://claritidiagnostics.com/physicians/our-process/
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- DDeletion/duplication analysis
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- None/not applicable
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- illumina Miniseq
- None/not applicable
Establish or confirm diagnosis
Predictive risk information for patient and/or family members
Lifestyle planning
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.99.99
Citations
Not provided
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Full gene sequencing and del/dup analysis
- AMA/NCHPEG, 2012
- NCI PDQ, Genetics of Colorectal CancerGenetics of Colorectal Cancer (PDQ®): Health Professional Version
- NCI PDQ, Breast and Gynecologic CancersGenetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
- NCCN, 2023NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2023
- NICE, 2020UK NICE Diagnostics Guidance DG42, Testing strategies for Lynch syndrome in people with endometrial cancer, 2020
- ACMG ACT, 2019American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants, Lynch Syndrome (Hereditary Non-polyposis Colon Cancer [HNPCC]), 2019
- SGO, 2014Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer
- ACMG ACT, 2012American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.