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Test Directory » PALB2 Sequencing and Deletion/Duplication

Test Directory PALB2 Sequencing and Deletion/Duplication

PALB2 Sequencing and Deletion/Duplication

Order Code: PALB2

Test Summary

Sequencing and deletion/duplication analyses of the PALB2 gene will identify individuals at risk for PALB2-related cancers. Fanconi Anemia (subtype FA-N) has been linked to homozygous or compound heterozygous mutations in the PALB2 gene, and thus this testing will identify carriers of Fanconi Anemia (FA-N) when a monoallelic mutation is identified. This testing can also assist with diagnosis of Fanconi Anemia in an individual suspected of having subtype FA-N, which is associated with Biallelic PALB2 mutations.

Aliases

Specimen Collection

Special Instructions

N/A

Preferred Specimen

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

Minimum Volume

2 mL whole blood • 2 mL saliva • 1 buccal swab • 10 mg skin fibroblasts

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.

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.

Storage

N/A

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

Limitations

N/A

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

Unacceptable Specimens

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

Order Code

PALB2

EPIC (Premier) Code

LAB6378

Includes

N/A

CPT Code

81307
81479

Billing Code

671303
671304

CPT Statement

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 the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Physician Attestation of Informed Consent

N/A

Testing Laboratory

Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano CA, 92675

Department

Reference Testing

Reference Range

See Laboratory Report

Setup Schedule / Expected Turnaround Time

Tuesday, Thursday, Saturday; Report available: 15 - 22 days from completed pre-authorization