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Houston, Texas

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Medical Genetics Test Details

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HNPCC MSI & IHC Screening
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 | Hereditary Non-Polyposis Colon Cancer | HNPCC - Associated Microsatellite Instability | PMS2-Related Hereditary Non-Polyposis Colon Cancer | PMS2-Related Turcot Syndrome | PMS2-Related Muir-Torre Syndrome
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 test includes both Microsatellite Instability (MSI) (test code 9150) and immunohistochemical (IHC) staining for mismatch repair (MMR) proteins (test code 9808) in tumor tissue. The 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. The IHC test evaluates the expression of MMR proteins in tumor tissue; absence of expression (no staining) for a particular protein suggests a molecular defect responsible for mismatch repair deficiency.
Test Details
Test Code: 6098
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. It also includes immunohistochemical staining for MLH1, MSH2, MSH6 and PMS2 proteins in tumor tissue.

Special Notes: BOTH the Blood and Tumor Block must be sent for this test. A copy of the Pathology Report MUST be included.
Technical Information
Methodology: MSI: Multiplex PCR and capillary gel electrophoresis
IHC: Immunohistochemistry using the following antibodies ? MLH1: G168-15, MSH2: FE11; MSH6: BC/44 and PMS2: A16-14.
Gene Name: MLH1, MSH2, MSH6, PMS2
Protein Name: DNA mismatch repair protein Mlh1, DNA mismatch repair protein Msh2, DNA mismatch repair protein Msh6, Mismatch repair endonuclease PMS2
Sample & Shipping Information
Test Requisition: Cancer Molecular Germline
Specimen Type: 1. 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 2-8C (Ambient) in an insulated container by overnight courier. Specimen should arrive in the laboratory within 24 hrs of collection. Do not heat or freeze.

Specimen Type: 2. FFPE - Tumor Block (and Peripheral blood, see above)
Requirements: Paraffin-embedded, formalin-fixed tissue block containing adequate amounts of tumor to be analyzed**. Please include a copy of corresponding surgical pathology report. Store specimen at room temperature (20-23.5C).
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.

Shipping Conditions: Ship at room temperature (20-25C) 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.

Specimen Type: 3. FFPE - Slide(s) (and Peripheral blood, see above)
Requirements: 1 H&E stained slide
6 unstained 5um thick slides (for IHC)
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 (20-23.5C).
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.

Shipping Conditions: Ship at room temperature (20-25C) 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.

Turn Around Time: 7 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81301x1, 88342x4


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