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MLH1 Hypermethylation Analysis, Blood
Clinical Genetic Test
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offered by
Mayo Clinic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000597582.2
DIGESTIVE SYSTEMCANCERSYNDROMIC DISEASE ... View more
Last updated in GTR: 2024-03-25
View version history
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Predictive
Conditions (1): Help
Lynch syndrome
Genes (1): Help
MLH1 (3p22.2)
Methods (1): Help
Molecular Genetics - Methylation analysis: Methylation-specific PCR
Target population: Help
As an adjunct to positive hypermethylation in tumor to distinguish …
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis; Guidance for management; Guidance for selecting a drug therapy and/or dose; ...
Ordering Information
Offered by: Help
Mayo Clinic Laboratories
View lab's website
View lab's test page
Test short name: Help
MLHPB
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Test Order Code: Help
MLHPB
View other test codes
LOINC codes: Help
**LOINC codes notice
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Megan Hoenig, MS, MPH, Certified Genetic counselor, CGC, Genetic Counselor
GCMolgen@mayo.edu
1-800-533-1710
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
https://www.mayocliniclabs.com/test-catalog/overview/35500#Specimen
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Methylation analysis
Methylation-specific PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Predictive
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Hitchins MP, Ward RL. Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet. 2009;46(12):793-802. doi:10.1136/jmg.2009.068122. Epub 2009 Jun 29. PMID: 19564652.

Guidance for management
View citations (1)
  • Hitchins MP, Ward RL. Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet. 2009;46(12):793-802. doi:10.1136/jmg.2009.068122. Epub 2009 Jun 29. PMID: 19564652.

Guidance for selecting a drug therapy and/or dose
View citations (1)
  • Hitchins MP, Ward RL. Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet. 2009;46(12):793-802. doi:10.1136/jmg.2009.068122. Epub 2009 Jun 29. PMID: 19564652.

Predictive risk information for patient and/or family members
View citations (1)
  • Hitchins MP, Ward RL. Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet. 2009;46(12):793-802. doi:10.1136/jmg.2009.068122. Epub 2009 Jun 29. PMID: 19564652.

Target population: Help
As an adjunct to positive hypermethylation in tumor to distinguish between somatic and germline hypermethylation. As an adjunct to negative MLH1 germline testing in cases where colon or endometrial tumor demonstrates microsatellite instability-H (MSI-H) and loss of MLH1 protein expression.
View citations (5)
  • MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. Hitchins M, et al. Gastroenterology. 2005;129(5):1392-9. doi:10.1053/j.gastro.2005.09.003. PMID: 16285940.
  • MLH1 germline epimutations in selected patients with early-onset non-polyposis colorectal cancer. Valle L, et al. Clin Genet. 2007;71(3):232-7. doi:10.1111/j.1399-0004.2007.00751.x. PMID: 17309645.
  • Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. Niessen RC, et al. Genes Chromosomes Cancer. 2009;48(8):737-44. doi:10.1002/gcc.20678. PMID: 19455606.
  • Hitchins MP, Ward RL. Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer. J Med Genet. 2009;46(12):793-802. doi:10.1136/jmg.2009.068122. Epub 2009 Jun 29. PMID: 19564652.
  • Idos G, Valle L: Lynch syndrome. In: Adam MP, Mirzaa GM, Pagon RA, et al, eds. GeneReviews (Internet). University of Washington, Seattle; 2004. Updated February 2, 2021. Accessed June 27, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK1211/
Research:
Is research allowed on the sample after clinical testing is complete? Help
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
A PCR-based assay is used to test normal DNA for the presence of hypermethylation of the MLH1 promoter. This is a modification of the method described by Grady et al.(Grady WM, Rajput A, Lutterbaugh JD, Markowitz SD: Detection of aberrantly methylated hMLH1 promoter DNA in the serum of patients with … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
A total of 30 cases were run for the accuracy studies and of the cases there was 93% (28/30) concordance with the reference result. The limit of detection was determined to be 5% methylated DNA. Test results should be interpreted in the context of clinical findings, family history, and other … View more
Assay limitations: Help
Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment

PT Provider: Help
Platform PT covered utilizing ML1HM assay

Description of PT method: Help
Platform PT covered utilizing ML1HM assay
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in 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.