FLCN Sequencing and Deletion/Duplication

Test Code

38806

CPT Codes
81479

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

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

Setup Schedule

Set up: Tues, Thurs, Sat; Report available: 15-22 days from completed pre-authorization

Reference Range

See Laboratory Report

Clinical Significance

This test includes sequencing and deletion/duplication analysis of the FLCN gene. A pathogenic variant identified in the FLCN gene is consistent with a diagnosis of Birt-Hogg-Dube (BHD) syndrome. Individuals with BHD syndrome have an elevated risk of renal tumors, pulmonary cysts, and spontaneous pneumothorax. Various cutaneous lesions occur in nearly all individuals with BHD syndrome.

Performing Laboratory

Quest Diagnostics Nichols Institute-San Juan Capistrano, CA

33608 Ortega Highway

San Juan Capistrano, CA 92675-2042

Last Updated: March 23, 2022

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.