PTEN Sequencing and Deletion/Duplication

PTEN Sequencing and Deletion/Duplication

Test Code

92566
81321, 81323
⁠⁠⁠⁠⁠⁠⁠CPT coding may differ dependent on payer rules which may impact prior authorization testing.
Please direct any questions regarding CPT coding to the payer being billed.
CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.
This genetic test requires provider confirmation that patient informed consent has been received if the ordering provider is located in AK, AZ, DE, FL, GA, IA, MA, MN, MT, NV, NH, NJ, NY, OR, SC, SD, or VT or testing is performed in MA.
92566
81321, 81323
⁠⁠⁠⁠⁠⁠⁠CPT coding may differ dependent on payer rules which may impact prior authorization testing.
Please direct any questions regarding CPT coding to the payer being billed.
CPT Code is subject to a Medicare Limited Coverage Policy and may require a signed ABN when ordering.
This genetic test requires provider confirmation that patient informed consent has been received if the ordering provider is located in AK, AZ, DE, FL, GA, IA, MA, MN, MT, NV, NH, NJ, NY, OR, SC, SD, or VT or testing is performed in MA.
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection is not available in your area through Quest Mobile.

Clinical Significance

PTEN Sequencing and Deletion/Duplication - 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.

Test Resources

Test FAQ

Hereditary Cancer Single-Gene Sequencing and Deletion/Duplication

Algorithm

Using Pathology Results and Laboratory Testing to Assess Hereditary Syndromes Associated with Colorectal Cancer

Clinical Focus

Cutaneous Melanoma: Laboratory Support of Diagnosis and Management

Topic Brief

Colorectal Cancer: Laboratory Support of Diagnosis and Management

Test Details

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.

Methodology

DNA Bait Capture • Long Range Polymerase Chain Reaction • Next Generation Sequencing • Microarray

Assay Category

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.

Reference Range(s)

See Laboratory Report

LOINC® Codes, Performing Laboratory

Service Area must be determined
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.

Methodology

DNA Bait Capture • Long Range Polymerase Chain Reaction • Next Generation Sequencing • Microarray
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.

Reference Range(s)

See Laboratory Report
Service Area must be determined

Preferred Specimen(s)

5 mL whole blood collected in an EDTA (lavender-top) tube or ACD (yellow-top) tube

Alternative Specimen(s)

2 mL saliva to "fill to" line collected in OGD-500, Oragene-Dx Collection Kit or
1 buccal swab submitted in OCD-100A buccal kit (ORAcollect-Dx Collection Kit) or
10 mg skin fibroblasts collected in sterile plastic container or
2 flasks skin fibroblasts collected in each of two separate sterile T25 culture flasks or equivalent with 80-100% confluent growth

Minimum Volume

2 mL whole blood • 2 mL saliva • 1 buccal swab • 10 mg skin fibroblasts • 2 flasks 75% confluent

Collection Instructions

Do not hold specimen. Forward to laboratory when specimen arrives.

Whole blood: 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 Container

EDTA (lavender-top) tube or ACD (yellow-top) tube

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

Reject Criteria

Do not reject. Forward to performing laboratory for evaluation of sample.

Setup Schedule

Service Area must be determined
5 mL whole blood collected in an EDTA (lavender-top) tube or ACD (yellow-top) tube
2 mL saliva to "fill to" line collected in OGD-500, Oragene-Dx Collection Kit or
1 buccal swab submitted in OCD-100A buccal kit (ORAcollect-Dx Collection Kit) or
10 mg skin fibroblasts collected in sterile plastic container or
2 flasks skin fibroblasts collected in each of two separate sterile T25 culture flasks or equivalent with 80-100% confluent growth
2 mL whole blood • 2 mL saliva • 1 buccal swab • 10 mg skin fibroblasts • 2 flasks 75% confluent
Do not hold specimen. Forward to laboratory when specimen arrives.

Whole blood: 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.
EDTA (lavender-top) tube or ACD (yellow-top) tube
Room temperature
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
Do not reject. Forward to performing laboratory for evaluation of sample.
Service Area must be determined
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection is not available in your area through Quest Mobile.
Test Details

Clinical Significance

Test Resources

Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

The CPT codes provided are based on AMA guidance 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.

This material contains content from LOINC® (http://loinc.org). The LOINC Table, LOINC Table Core are copyright © 1995-2019, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license.

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