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MLH1/MSH2/MSH6/PMS2/EPCAM Somatic Tumor Mismatch Repair Sequencing and Deletion/Duplication Test
- Hereditary Nonpolyposis Colorectal Cancer
- IMCAN Tumor
- Mismatch Repair Somatic
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
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
Whole blood: 4 mL
Whole blood samples must be received at Impact Genetics within five days of collection.
Room temperature. Whole blood is stable at room temperature for five days. Fixed tissue is stable indefinitely.
Causes for Rejection
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.