Hereditary Non-Polyposis Colorectal Cancer (HNPCC) or 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.: GTR000527981.1
- Last updated: 2023-07-21
- Test version history
- 527981.1, last updated: 2023-07-21
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 Lynch syndrome
Offered by GeneKor MSA
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Hereditary Non-Polyposis Colorectal Cancer (HNPCC) or Lynch Syndrome (Lynch Syndrome)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Mutation Confirmation, Pre-symptomatic, Recurrence, Risk Assessment, Screening, Therapeutic management
Click Indication tab for more information.
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://www.genekor.com/hereditary-colon-endometrial-cancer-colongs-p-213.html
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
- Multiplex Ligation-dependent Probe Amplification (MLPA)
- Applied Biosystems 3130 Genetic Analyzer, MRC Holland
- Illumina MiSeq system
- CSequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing (MPS)
- Applied Biosystems 3130 Genetic Analyzer, CE IVD Kit
- Illumina MiSeq system
- TTargeted variant analysis
- Bi-directional Sanger Sequence Analysis
- Applied Biosystems 3130 Genetic Analyzer
- Illumina MiSeq system
Guidance for management
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- Goldberg et al, 2019Lynch Syndrome in Urologic Malignancies - What Does the Urologist Need to Know?
- 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, 2021UK NICE Guideline NG151, Colorectal cancer, 2021
- NICE, 2020UK NICE Diagnostics Guidance DG42, Testing strategies for Lynch syndrome in people with endometrial cancer, 2020
- 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.