MLH1 Sequencing and Deletion/Duplication
GTR Test Accession: Help GTR000508789.2
CAP
CANCERDIGESTIVE SYSTEMINHERITED DISEASE ... View more
Last updated in GTR: 2014-10-25
Last annual review date for the lab: 2023-06-23 LinkOut
At a Glance
Diagnosis; Screening
Lynch syndrome; Carcinoma of colon; Colorectal cancer, hereditary nonpolyposis, type 2; ...
Genes (1): Help
MLH1 (3p22.2)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
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Ordering Information
Offered by: Help
Knight Diagnostic Laboratories - Molecular Diagnostic Center
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
Lab contact: Help
Sarah McCabe, Laboratory Contact
mccabe@ohsu.edu
503-494-5400
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
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 4
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: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Screening
Recommended fields not provided:
Technical Information
Test Comments: Help
The testing strategy for Lynch syndrome includes screening by MSI analysis followed by immunohistochemistry (IHC) testing of MMR proteins. Full gene sequencing can then be performed to identify germline mutations in the putative mutated gene(s) identified by IHC.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The sensitivity is estimated at around 99%.
View citations (1)
  • Analytical validity of LDT is determined during validation of test following CLIA and CAP recommendations.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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