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Test ID: LYNCH Lynch Syndrome Panel, Varies

Useful For

Establishing a diagnosis of Lynch syndrome

 

Identification of familial MLH1, MSH2, MSH6, PMS2, or EPCAM variants to allow for predictive testing in family members

Method Name

Custom Sequence Capture and Targeted Next Generation Sequencing Followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing and Gene Dosage Analysis by Array Comparative Genomic Hybridization (aCGH) or Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reporting Name

Lynch Syndrome Panel

Specimen Type

Varies


Shipping Instructions


Specimen should arrive within 96 hours of collection.



Specimen Required


Prior Authorization is available for this assay; see Special Instructions. Submit the required form with the specimen.

 

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 specimen in original tube.

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Clinical Information

While the risk for colorectal cancer in the general population is 6%, rarely colon cancer is attributable to hereditary factors associated with a single abnormal gene that predisposes individuals to increased risks for cancer in a family.

 

Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer or HNPCC) is an autosomal dominant hereditary cancer syndrome associated with germline variants in the mismatch repair genes, MLH1, MSH2, MSH6, and PMS2. Deletions within the 3' end of the EPCAM gene, which lead to inactivation of the MSH2 promotor, have also been associated with Lynch syndrome.

 

Lynch syndrome is predominantly characterized by significantly increased risks for colorectal and endometrial cancer. The lifetime risk for colorectal cancer is highly variable and dependent on the gene involved. The risk for colorectal cancer associated MLH1 and MSH2 variants (approximately 50%-80%) is generally higher than the risks associated with variants in the other Lynch syndrome-related genes. The lifetime risk for endometrial cancer (approximately 25%-60%) is also highly variable. Other malignancies within the tumor spectrum include gastric cancer, ovarian cancer, hepatobiliary and urinary tract carcinomas, and small bowel cancer. The lifetime risks for these cancers are less than 15%. Of the 4 mismatch repair genes, variants within the PMS2 gene confer the lowest risk for any of the tumors within the Lynch syndrome spectrum.

 

The National Comprehensive Cancer Network and the American Cancer Society provide recommendations regarding the medical management of individuals with Lynch syndrome.

Reference Values

An interpretive report will be provided.

Interpretation

All detected alterations are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. 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 May;17(5):405-424

2. Lindor NM, McMaster ML, Lindor CJ, Greene MH, National Cancer Institute, Division of Cancer Prevention, Community Oncology and Prevention Trials Research Group: Concise handbook of familial cancer susceptibility syndromes-second edition. J Natl Cancer Inst Monogr. 2008;(38):1-93

3. Kohlmann W, Gruber SB: Lynch syndrome. In: Adams MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews (Internet). University of Washington, Seattle; 2004. Updated April 12, 2018. Accessed August 12, 2020 Available at www.ncbi.nlm.nih.gov/books/NBK1211/

4. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines): Genetic/Familial High-Risk Assessment: Colorectal Version 2.2014. Accessed 6/1/2015. Available at www.nccn.org

5. Vasen HFA, Moslein G, Alonso A, et al: Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet. 2007;44:353-362

6. Baglietto L, Lindor NM, Dowty JG, et al: Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst. 2010 Feb3;102(3):193-201

7. Senter L, Clendenning M, Sotamaa K, et al: The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology. 2008;135:419-428

Day(s) and Time(s) Performed

Varies

Analytic Time

3 weeks

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81292

81295

81298

81317

81319

81403

81228

LOINC Code Information

Test ID Test Order Name Order LOINC Value
LYNCH Lynch Syndrome Panel In Process

 

Result ID Test Result Name Result LOINC Value
37830 Result Summary 50397-9
37831 Result 82939-0
37832 Interpretation 69047-9
37833 Additional Information 48767-8
37834 Specimen 31208-2
37835 Source 31208-2
37836 Released By 18771-6

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Lynch Syndrome Panel (LYNCH) Prior Authorization Ordering Instructions in Special Instructions

3. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519) in Special Instructions

4. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Oncology Test Request (T729)

-Gastroenterology and Hepatology Client Test Request (T728)

Testing Algorithm

See Lynch Syndrome Testing Algorithm in Special Instructions.

Mayo Clinic Laboratories | Gastroenterology Catalog Additional Information:

mml-gi-colon-cancer