MLH1/MSH2/MSH6/PMS2/EPCAM Somatic Tumor Mismatch Repair Sequencing and Deletion/Duplication Test

CPT: 81445; 88381
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Test Details


  • Hereditary Nonpolyposis Colorectal Cancer
  • IMCAN Tumor
  • Mismatch Repair Somatic
  • MLH1
  • MSH2
  • MSH6
  • PMS2


Tumors with mismatch repair deficiency as determined by MSI or IHC are suspected for HNPCC, Lynch or Lynch-like syndrome. This test will assess the tumor for a pathogenic genetic variant which, if found, may be evaluated in blood to determine germline/hereditary status.


This test was developed, and its performance characteristics determined, by Impact Genetics. It has not been cleared or approved by the US Food and Drug Administration (FDA).


Next generation sequencing (NGS); Multiplex Ligation-Dependent Probe Amplification (MLPA); Sanger sequencing

Specimen Requirements


Formalin fixed paraffin-embedded (FFPE) tissue; whole blood


Formalin fixed paraffin embedded (FFPE) block (preferred) or 19 serial unstained unbaked slides (5-10 microns thick) with 1 adjacent unstained unbaked slide (4 microns thick); Whole Blood: 8.5 mL

Minimum Volume

Whole blood: 4 mL


Lavender-top (EDTA) tube, yellow-top (ACD) tube, blocks or slides


Whole blood samples must be received at Impact Genetics within five days of collection.

Storage Instructions

Room temperature. Whole blood is stable at room temperature for five days. Fixed tissue is stable indefinitely.

Causes for Rejection

Coagulated blood

Clinical Information

Special Instructions

Testing referred to Impact Genetics, Ontario, Canada. Pathology report with MSI or IHC required. Please direct any questions regarding this test to 877-624-9769.


Haraldsdottir S, Hampel H, Tomsic J, et al. Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. Gastroenterology. 2014 Dec;147(6):1308-1316.25194673

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