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

CPT: Call client services.
Updated on 11/27/2017
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Test Details

Synonyms

  • EPCAM
  • Hereditary Nonpolyposis Colorectal Cancer
  • HNPCC
  • IMCAN Tumor
  • MLH1
  • MMR Somatic
  • MSH2
  • MSH6
  • PMS2

Use

Tumors with mismatch repair (MMR) 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.

Limitations

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).

Methodology

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

Specimen Requirements

Specimen

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

Formalin fixed paraffin-embedded (FFPE) tissue; whole blood, unstained slides with H&E slide, block or curls

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

Volume

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

FFPE: 20 slides, 5-10 mm thick; Whole Blood: 8.5 mL

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

Container

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

Collection

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.

<p>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.>
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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.

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References

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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