Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

Order Display Name: Geisinger Epic Procedure Code Or ID CPT Code:  

LI-FRAUMENI SYNDROME, TP53 SEQUENCING AND DELETION/DUPLICATION

ORDERING INFORMATION:
Geisinger Epic Procedure Code: LAB1336         Geisinger Epic ID: 53269

SPECIMEN COLLECTION
Specimen type:
Whole blood
Preferred collection container:
Specimen required:
4 mL whole blood; minimum 2 mL.
Special notes:
Send report of results for family member with known BRCA mutation.

SPECIMEN PROCESSING
Transport temperature:
Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Specimen stability:
Room temperature: 8 days. Refrigerated: 8 days. Frozen: Unacceptable.
Rejection criteria:
Gross hemolysis • Clotted specimens

TEST DETAILS
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 purpose
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:
Exon Capture
Next Generation Sequencing with Microarray Confirmation
Synonyms:
Quest test code 92560, Li-Fraumeni
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.

Performing Locations

Quest Diagnostics

Technical Lead: Michael Weaver    
Frequency: Set up: Tues, Thurs, Sat; Report available: 13 days from completed pre-authorization    
Performed stat? No
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