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PTEN Sequencing and Deletion/Duplication
Test Code92566
CPT Codes
81321, 81323<br><strong>CPT coding may differ dependent on payer rules which may impact prior authorization testing.</strong><br><strong>Please direct any questions regarding CPT coding to the payer being billed.</strong>
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube or ACD (yellow-top) tube
Patient Preparation
Saliva: Do not eat, drink, smoke or chew gum for 30 minutes before collection.
Buccal swab: Please refer to user instructions provided with kit. Ensure the sponge tip does not come into contact with any surface prior to collection. Do not eat, drink, smoke, or chew gum for 30 minutes before collection. Do not touch swab tips or allow contact with any other object.
Minimum Volume
2 mL whole blood • 2 mL saliva • 1 buccal swab • 10 mg skin fibroblasts
Other Acceptable Specimens
2 mL saliva to "fill to" line collected in OGD-500, OrageneDx collection kit • 1 buccal swab submitted in OCD-100A buccal kit (ORAcollect-DX collection kit) • 10 mg skin fibroblasts collected in sterile plastic container • 2 flasks (2 flasks 75% confluent minimum) skin fibroblasts collected in each of two separate sterile T-25 culture flasks or equipment with 80-100% confluent growth
Instructions
Do not hold specimen. Forward to laboratory when specimen arrives.
Whole blood (preferred): Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Saliva: 2 mL saliva collected in the Oragene-Dx collection kit up to the "fill to" line (OGD-500/OGD-600, OGD-510/OGD-610). Do NOT remove the plastic film from the funnel lid.
For fibroblasts and skin fibroblasts, call 1-866-GENEINFO (1-866-436-3463) prior to collecting and ordering.
Transport Temperature
Room temperature
Specimen Stability
Whole blood
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Saliva or buccal swab
Room temperature: 14 days
Refrigerated: 14 days
Frozen: 14 days
Fibroblasts and skin fibroblasts
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Saliva or buccal swab
Room temperature: 14 days
Refrigerated: 14 days
Frozen: 14 days
Fibroblasts and skin fibroblasts
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Do not reject. Forward to performing laboratory for evaluation of sample.
Methodology
DNA Bait Capture • Long Range Polymerase Chain Reaction • Next Generation Sequencing • Microarray
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Tues, Thurs, Sat; Report available: 15-22 days from completed pre-authorization
Reference Range
See Laboratory Report
Clinical Significance
Mutations in the PTEN gene are the main cause of Cowden Syndrome, which is characterized by hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. Mutations in the PTEN gene are also associated with a lifetime breast cancer risk of 85%. Sequencing and deletion/duplication analyses of the PTEN gene will identify individuals who are affected with Cowden Syndrome and therefore are at risk for PTEN- related cancers.
Performing Laboratory
Quest Diagnostics Nichols Institute-San Juan Capistrano, CA |
33608 Ortega Highway |
San Juan Capistrano, CA 92675-2042 |