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Test Code MLHPB MLH1 Hypermethylation Analysis, Blood

Reporting Name

MLH1 Hypermethylation Analys, Blood

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

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

Method Name

Polymerase Chain Reaction (PCR)


Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



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.

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 Type

Varies

Specimen Minimum Volume

1 mL

Specimen Stability Information

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

Reject Due To

All specimens will be evaluated by Mayo Clinic Laboratories for test suitability.

Reference Values

Interpretive report will be provided.

Interpretation

The report will include specimen information, assay information, and interpretation of test results.

 

Absence of hypermethylation is reported as not providing evidence for germline (constitutional) MLH1 promoter hypermethylation. Presence of hypermethylation is reported as consistent with germline (constitutional) inactivation of MLH1 by promoter hypermethylation.

Day(s) Performed

Varies

Report Available

8 to 12 days

Test 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

81288

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MLHPB MLH1 Hypermethylation Analys, Blood 97760-3

 

Result ID Test Result Name Result LOINC Value
52906 Result Summary 50397-9
52907 Result 82939-0
52908 Interpretation 69047-9
52909 Reason for Referral 42349-1
52910 Specimen 31208-2
52911 Source 31208-2
52912 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.

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Inherited Cancer Syndromes Patient Information (T519)

Testing Algorithm

For information see Lynch Syndrome Testing Algorithm.