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Geisinger Medical Laboratories Test Catalog
LI-FRAUMENI SYNDROME, TP53 SEQUENCING AND DELETION/DUPLICATION |
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Geisinger Epic Procedure Code: LAB1336
Geisinger Epic ID: 53269
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SPECIMEN COLLECTION |
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Specimen type: |
Whole blood | |
Preferred collection container: |
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Alternate Collection Container: |
3 mL lavender-top (K2 EDTA) tube
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Specimen required: |
5 mL whole blood; minimum 2 mL. | |
Special notes: |
Send report of results for family member with known BRCA mutation. | |
| SPECIMEN PROCESSING |
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Transport temperature: |
Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. | |
Specimen stability: |
Room temperature: 14 days. Refrigerated: 14 days. Frozen: Unacceptable. | |
Rejection criteria: |
Gross hemolysis • Clotted specimens | |
TEST DETAILS |
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Additional information: |
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes. | |
CPT code(s): |
81351, 81479 | |
| Note: The billing party has sole responsibility for CPT coding. Any questions regarding coding should be directed to the payer being billed. The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only. | ||
Methodology: |
Next Generation Sequencing with Microarray Confirmation Long-Range Polymerase Chain Reaction DNA Bait Capture |
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Synonyms: |
Quest test code 92560, Li-Fraumeni
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Clinical significance: |
Mutations in the TP53 gene leads to Li-Fraumeni syndrome (LFS) which is an inherited cancer syndrome with an early onset of tumors, multiple tumors within an individual, and often multiple affected family members. The most common types of tumors are soft tissue sarcomas and osteosarcomas, breast cancer, brain tumors, leukemia, and adrenocortical carcinoma. Sequencing and deletion/duplication analyses of the TP53 gene will identify individuals who are affected with LFS and therefore at risk for TP53-related cancers. | |