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Epic Code LAB3581 MLH1 Promoter Hypermethylation

Test Name Alias

mutL homologue 1 | 7091

Interface Order Alias

55044

Clinical Information

Tissue sections are examined by a pathologist to scribe relevant tumor. Pyrosequencing is used to detect methylation status in the promoter region of MLH1 gene. This test is performed to follow up a positive Lynch Syndrome screening testing by MSI/IHC. When the MLH1 promoter methylation is detected (positive), the tumor is very likely sporadic in nature. When the MLH1 promoter methylation is not detected (negative), the cancer may be hereditary in nature, and a referral to cancer genetics is indicated.

Specimen Requirements

Specimen Type: Formalin-fixed, paraffin-embedded (FFPE) tissue (block or 10 unstained slides) accompanied by an H&E slide scribed by Pathologist indicating tumor and ATL Surgical Specimen Testing order sheet.

Specimen Transport Temperature

Ambient

Specimen Stability

Laboratory Retention:  Extracted DNA retained greater than 1 year

Reflex Information

Mandatory Reflex Information:

Immunohistochemical (IHC) Stain – All newly diagnosed patients with endometrial cancer:  If MLH1 absent

Test Frequency

Available once per week (Monday – Friday), usual TAT less than 7 days

Reference Range

An interpretative report will be provided

Performing Department

MOLECULAR DIAGNOSTICS

Performing Department Laboratory Location

Spectrum Health Advanced Technology Laboratory (ATL), Grand Rapids, MI

Methodology

Pyrosequencing

CPT

81288

CDM Code

3900408

Epic Test ID

1230100949

Beaker LOINC

MLH1 PROMOTER HYPERMETHYLATION: 58416-9

Mayo Access Code

SHO55044

Reviewed Date

8/23/2021

Beaker Names

Beaker Procedure Name: MLH1 PROMOTER HYPERMETHYLATION
Beaker Display Name: MLH1 Promoter Hypermethylation
BEAKER TEST NAME: MLH1 PROMOTER HYPERMETHYLATION
BEAKER TEST REPORT NAME: MLH1 Promoter Hypermethylation

Beaker Synonyms

No synonym on file

Beaker Collection and Specimen Handling

BEAKER COLLECTION: Tissue/Other = LOOK+LOOK Paraffin Block = Mark Tumor and Normal

Beaker Location, Container and Temperature

LC MOLECULAR DIAGNOSTICS: FORMALIN 10% (Preferred)-Ambient
LC MOLECULAR DIAGNOSTICS: STERILE CONT F(Acceptable)