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HelpTest ID: LYNCP Lynch Syndrome Panel, Varies
Ordering Guidance
This gene panel tests for germline variants in the Lynch syndrome genes. This is not a tumor test or immunohistochemistry (IHC). For information on tumor testing or IHC staining for Lynch syndrome, see TMSI / Microsatellite Instability, Tumor or IHC / Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor.
For a comprehensive hereditary cancer panel that includes MLH1, MSH2, MSH6, PMS2, and EPCAM genes, consider ordering 1 of the following tests:
-CRCGP / Hereditary Gastrointestinal Cancer Panel, Varies
-PANCP / Hereditary Pancreatic Cancer Panel, Varies
-PRS8P / Hereditary Prostate Cancer Panel, Varies
-BRGYP / Hereditary Breast/Gynecologic Cancer Panel, Varies
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.
Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. For more information see FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Testing minors for adult-onset predisposition syndromes is discouraged by the American Academy of Pediatrics, the American College of Medical Genetics and Genomics, and the National Society of Genetic Counselors.
Shipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Necessary Information
Prior Authorization is available, but not required, for this test. If proceeding with the prior authorization process, submit the required form with the specimen.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file.
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Molecular Genetics: Inherited Cancer Syndromes Patient Information Sheet (T519)
3. Lynch Syndrome Panel (LYNCP) Prior Authorization Ordering Instructions
4. If not ordering electronically, complete, print, and send a Oncology Test Request (T729)
Useful For
Establishing a diagnosis of Lynch syndrome or constitutional mismatch repair deficiency allowing for targeted cancer surveillance based on associated risks
Identifying MLH1, MSH2, MSH6, PMS2, or EPCAM variants to allow for predictive testing in family members
Genetics Test Information
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 5 genes associated with Lynch syndrome: MLH1, MSH2, MSH6, PMS2, and EPCAM (copy number variant only). For additional details see Method Description and Targeted Genes and Methodology Details for Lynch Syndrome Panel.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for Lynch syndrome.
Prior Authorization is available for this assay.
Testing Algorithm
First-tier testing may be considered/recommended. For more information see Lynch Syndrome Testing Algorithm.
Method Name
Sequence Capture and Next-Generation Sequencing (NGS), Polymerase Chain Reaction (PCR), Sanger Sequencing and/or Multiplex Ligation-Dependent Probe Amplification (MLPA)
Reporting Name
Lynch Syndrome PanelSpecimen Type
VariesSpecimen Minimum Volume
1 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Clinical Information
The lifetime risk of colorectal cancer in the general population is 4% to 6%.(1) Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer) is an autosomal dominant hereditary cancer syndrome accounting for 2% to 4% of all colorectal cancer cases.(2,3)
Lynch syndrome is associated with germline variants in the mismatch repair genes, MLH1, MSH2, MSH6, PMS2, or deletions of the EPCAM gene. It is predominantly characterized by significantly increased risks for colorectal and endometrial cancer.(2,3) The lifetime risk for cancer is highly variable and dependent on the gene involved. Other malignancies within the tumor spectrum include gastric, ovarian, and small bowel cancers and hepatobiliary and upper urinary tract carcinomas.(2,3)
Individuals with biallelic disease-causing variants in the same mismatch repair gene are at risk for constitutional mismatch repair deficiency, an autosomal recessive childhood-onset hereditary cancer syndrome.(3)
The National Comprehensive Cancer Network and the American Cancer Society provide recommendations regarding the medical management of individuals with Lynch syndrome.(2,4)
Reference Values
An interpretive report will be provided.
Interpretation
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(5) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Clinical Reference
1. Howlader N, Noone AM, Krapcho M, et al. SEER Cancer Statistics Review. 1975-2018. National Cancer Institute. Updated April 2021. Accessed June 28, 2023. Available at: https://seer.cancer.gov/csr/1975_2018
2. Gupta S, Provenzale D, Llor X, et al. NCCN Guidelines Insights: Genetic/familial high-risk assessment: colorectal, version 2.2019. J Natl Compr Canc Netw. 2019;17(9):1032-1041
3. Idos G, Valle L. Lynch syndrome. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews (Internet). University of Washington, Seattle; 2004. Updated February 2, 2021. Accessed June 28, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK1211/
4. Smith RA, Andrews KS, Brooks D, et al. Cancer screening in the United States, 2019: A review of current American Cancer Society guidelines and current issues in cancer screening. CA Cancer J Clin. 2019;69(3):184-210
5. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
Day(s) Performed
Varies
Report Available
21 days to 28 daysTest Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
81319
81317
81403
81292
81295
81298
81479 (if appropriate for government payers)
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| LYNCP | Lynch Syndrome Panel | 105197-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 614755 | Test Description | 62364-5 |
| 614756 | Specimen | 31208-2 |
| 614757 | Source | 31208-2 |
| 614758 | Result Summary | 50397-9 |
| 614759 | Result | 82939-0 |
| 614760 | Interpretation | 69047-9 |
| 614761 | Resources | 99622-3 |
| 614762 | Additional Information | 48767-8 |
| 614763 | Method | 85069-3 |
| 614764 | Genes Analyzed | 48018-6 |
| 614765 | Disclaimer | 62364-5 |
| 614766 | Released By | 18771-6 |
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