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Result |
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Reviewer |
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Resource |
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Method and Limitation |
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Additional Information |
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Comments |
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| PRIMARY |
| 1 |
Whole Blood EDTA |
5 (2) mL
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Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s) |
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| ALTERNATE |
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Whole Blood ACD Sol B |
5 (2) mL
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Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s) |
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Whole Blood ACD Sol A |
5 (2) mL
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Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s) |
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Sequencing: This test should be offered to patients with colorectal cancer who meet the Bethesda criteria established by the National Cancer Insitute (NCI), and/or that their tumors display microsatellite instability (MSI) or replication error (RER) phenotype. Detection of a germline mutation in one or the mismatch repair genes helps to establish a clinical diagnosis of HNPCC in affected patients. Mutation detection in at risk family member allows predictive diagnosis of the disease and thus intensive screening and early intervention of cancer. Deletion/Duplication: This assay detects deletions and/or duplication involving one or more exons for the MSH2 gene, and exons 8 and 9 for the EPCAM gene. This assay cannot detect smaller genetic altercations, such as point mutations affecting amino acid coding or mRNA splicing. This assay cannot detect mutations affecting MSH2 and EPCAM gene regions not examined in the assay(including most of the intronic regions). This assay cannot rule out the presence of germline mutations involving other mismatch repair genes.
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Specimen stability is crucial. Store and ship room temperature
immediately. Do not freeze. Send report of results for
family member with known mutation.
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| Setup Schedule |
| Tuesday, Thursday, Saturday |
| Reported (Analytical Time) |
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12 days
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CPT Codes
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81403,81297,81295
The CPT codes provided are based on AMA guidelines and are for informational purposes only.
CPT coding is the sole responsibility of the billing party.
Please direct any questions regarding coding to the payer being billed.
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| Notes |
If Result is positive cascading reflex to Path Variant, Variant 1, and VUS will be performed as needed.
Report available: 12 days from completed pre-authorization.
Transport Temperature: Room temperature
Methodology: Massively Parallel Sequencing
Reject Criteria: Gross Hemolysis; Clotted
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