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Mismatch Repair by Immunohistochemistry with Reflex to BRAF Mutation Detection with Reflex to MLH1 Promoter Methylation

MSI REFLEX
Example Reports
Abnormal
Normal

Ordering Recommendation

Preferred screening test for Lynch syndrome (LS) in individuals with colorectal cancer. Definitive diagnosis of LS requires additional targeted germline mismatch repair gene testing. Do not use in endometrial cancer. If MLH1 is abnormal for Mismatch Repair by IHC, then BRAF Mutation Detection (3017204) will be added. If BRAF Mutation Detection is negative, MLH1 Promoter Methylation will be added.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Tumor tissue.

Specimen Preparation

Tumor Tissue: Formalin fix (10 percent neutral buffered formalin is preferred) and paraffin embed tissue. If sending precut slides, do not oven bake. Transport tissue block or 15 unstained (3- to 5-micron thick sections), positively charged slides in a tissue transport kit (ARUP Supply #47808). Available online through eSupply using ARUP Connect(TM) or contact ARUP Client Services at 800-522-2787. (Min: 10 slides). Protect paraffin block and/or slides from excessive heat.

Storage/Transport Temperature

Room temperature. Also acceptable: Refrigerated. Ship in cooled container during summer months.

Unacceptable Conditions

Paraffin block with less than 25 percent tumor tissue. Specimens fixed in any fixative other than 10 percent neutral buffered formalin. Decalcified specimens.

Remarks

Include surgical pathology report. Submit electronic request. If you do not have electronic ordering capability, use an ARUP requisition form complete with an ARUP client number. For additional technical details, please contact ARUP Client Services at 800-522-2787.
If multiple specimens (blocks or slides) are sent to ARUP, they must be accompanied by one of the following: an order comment indicating that the ARUP pathologist should choose the specimen most appropriate for testing (e.g., "Choose best block"), or individual orders for each sample submitted. A Pathologist Block Selection Fee (ARUP test code 3002076) will be added to orders that utilize the first option. If multiple specimens are sent to ARUP without a request for pathologist block/slide selection or individual orders, they will be held until clarification is provided.

Stability

Ambient: Indefinitely; Refrigerated: Indefinitely; Frozen: Unacceptable

Methodology

Qualitative Immunohistochemistry (IHC)/Qualitative Real-Time Polymerase Chain Reaction

Performed

Mon-Fri

Reported

1-5 days
If reflexed, add 7-10 days.

Reference Interval

Interpretive Data

Refer to report.

Refer to the Colorectal Cancer or Lynch Syndrome topics at arupconsult.com.

Compliance Category

Modified FDA

Note

If MLH1 is abnormal for mismatch repair by IHC, then BRAF Mutation Detection with Reflex to MLH1 Promoter Methylation (ARUP test code 3017204) will be added. If BRAF mutation detection is negative, MLH1 promoter methylation will be added. Additional charges apply.

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
05/21/2024
X
X
X
X
N/A

CPT Codes

88342; 88341 x3; if reflexed, add 81210; if further reflexed, add 81288

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Components

Component Test Code* Component Chart Name LOINC
0049199 Client Case or Ref # 94736-6
0049303 Mismatch Repair by IHC, Result 50595-8
0049305 Mismatch Repair by IHC with MLH1 50322-7
0049310 Mismatch Repair by IHC with MSH2 50323-5
0049320 Mismatch Repair by IHC with MSH6 50324-3
0049325 Mismatch Repair by IHC with PMS2 50328-4
3002969 MSI Tissue Source 31208-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • MSI
  • MSI with BRAF, MLH1reflex
  • MSI reflex to BRAF and MLH1 Methylation
Mismatch Repair by Immunohistochemistry with Reflex to BRAF Mutation Detection with Reflex to MLH1 Promoter Methylation