Juvenile Polyposis Panel (BMPR1A and SMAD4)

Test Code

94053

CPT Codes
81405, 81406, 81479

Preferred Specimen

5 mL whole blood collected in an EDTA (lavender-top) 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

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 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 pre-authorization

Reference Range

See Laboratory Report

Clinical Significance

Mutations in BMPR1A and SMAD4 are associated with Juvenile Polyposis syndrome (JPS). Individuals with JPS, have an increased risk for colorectal cancer (40-50%) and gastric cancer (up to 21%, if multiple polyps are identified in the stomach). The risk for small intestinal cancer and pancreatic cancer is also increased. This test detects pathogenic variants in the BMPR1A and SMAD4 genes.

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.