Microsatellite Instability Analysis (NCI Panel)
Turcot Syndrome | MLH1-Related Hereditary Non-Polyposis Colon Cancer | MLH1-Related Muir-Torre Syndrome | MLH1-Related Turcot Syndrome | MSH2-Related Hereditary Non-Polyposis Colon Cancer | MSH2-Related Muir-Torre Syndrome | MSH2-Related Turcot Syndrome | MSH6-Related Hereditary Non-Polyposis Colon Cancer | MSH6-Related Turcot Syndrome | Muir-Torre Syndrome | HNPCC - Associated Microsatellite Instability | PMS2-Related Hereditary Non-Polyposis Colon Cancer | PMS2-Related Turcot Syndrome | PMS2-Related Muir-Torre Syndrome
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| Test Information: |
This test is used to screen patients suspected to have an inherited cancer syndromes involving the DNA mismatch repair (MMR) process, such as Hereditary Non-Polyposis Colorectal Cancer (HNPCC / Lynch Syndrome) or confirm a clinical diagnosis.
This Microsatellite Instability (MSI) test evaluates changes in microsatellite length compared to normal tissue. MSI High (MSI-H) indicates that 2 or more microsatellites show instability, MSI low (MSI-L) indicates only one microsatellite showing instability and Microsatellite Stable (MSS) indicates no unstable microsatellites. The presence of MSI-H indicates a deficient DNA mismatch repair process in the tumor tissue.
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| Test Details |
| Test Code: |
9150 |
| Test Includes: |
This panel includes analysis of the NCI recommended markers (BAT25, BAT26, D2S123, D17S250, D5S346 plus NR21, NR22 and NR24 if necessary) for both the normal and tumor tissue.
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| Special Notes: |
BOTH the Blood and Tumor Block must be sent for this test. A copy of the Pathology Report MUST be included.
To order in combination with immunohistochemistry (IHC) of MLH1, MSH2, MSH6 and PMS2 please see test code (#6098).
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| Technical Information |
| Methodology: |
Multiplex PCR and capillary gel electrophoresis |
| Sample & Shipping Information |
| Test Requisition: |
Tumor Analysis |
| Specimen Type: |
FFPE - Slide(s) (and Peripheral blood, see above) |
| Requirements: |
1 H&E stained slide and 10 unstained 10um thick slides (non-charged, non-coated) for DNA extraction. Air dry. Do not oven dry. Please include a copy of corresponding surgical pathology report. Slides should contain adequate amounts of tumor to be analyzed**. Store specimen at room temperature (20-23.5°C).
Unacceptable Conditions: No tumor in tissue. Specimens fixed/processed in alternative fixatives have not been validated.
** Please contact the laboratory if less than 0.5 cm2 of tumor tissue is present on the selected slide/block.
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| Shipping Conditions: |
Ship at room temperature (20-25°C) in an insulated container by overnight courier. If shipping during the summer months please include a cold-pack to avoid extreme temperatures. Do not heat or freeze.
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| Specimen Type: |
Peripheral Blood (and Tumor Block/Slides, see below) |
| Requirements: |
Draw peripheral blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) or 2 cc (Infant<2yrs). |
| Shipping Conditions: |
Ship at 2-8°C (Ambient) in an insulated container by overnight courier. Specimen should arrive in the laboratory within 24 hrs of collection. Do not heat or freeze.
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