MLH1 Promoter Hypermethylation.




Test Mnemonic

MLH1PH

CPT Codes

  • 81288 - QTY (1)

Aliases

  • MLH1PH

Performing Laboratory

Cleveland Clinic Laboratories


Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
OneParaffin block, formalin fixedFormalin-fixed, paraffin-embedded blockN/AAmbientMinimum biopsy size 0.5 x 0.5 x 0.5 cm with mainly tumor tissue. Necrosis area should be less than 15%. Cut 12 charged, unbaked slides, 4um thick. Pre and post H&E slides must be examined. Tumor area will be microdissected from unstained slides.

Alternate Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
OneParaffin block, formalin fixedFormalin-fixed, paraffin-embedded blockN/AAmbientMinimum biopsy size 0.5 x 0.5 x 0.5 cm with mainly tumor tissue. Necrosis area should be less than 15%. Cut 8 sections, 10 um thick and place in microcentrifuge tube. Pre and post H&E slides must be examined.

Stability

Environmental Condition Description
AmbientAmbient is the only acceptable condition

Days Performed

2 days per week

Turnaround Time

7 days

Methodology

Name Description
Polymerase Chain Reaction (PCR) 
Pyrosequencing 

Special Info

Submit tissue specimen with anatomic pathology request form, and indicate MLH1 Promoter Hypermethylation on the form.

Clinical Info

Hypermethylation of the promoter of MLH1 in tumor tissue can inform differentiation of sporadic from hereditary tumors and guide further testing.

Clinical Limitation

MLH1 Promoter Assay detects hypermethylation in a region from -209 to -181 bases from the transcription start site of the promoter of the MLH1 gene. It does not detect methylation in other areas of the MLH1 promoter.

Clinical Reference

Methylation promoter hypermethylation present