Cystic Fibrosis Complete Rare Variant Analysis, Entire Gene Sequence

Test Code

10917

CPT Codes
81223

Physician Attestation of Informed Consent

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.

Includes

If amniotic fluid or chorionic villi sampling (CVS) is received, then an additional charge will be added for cell culture work (CPT code(s): 88235) if not already ordered

Preferred Specimen

5 mL whole blood collected in an EDTA (lavender-top) tube, EDTA (royal blue-top) tube, ACD (yellow-top) tube or sodium heparin (green-top) tube

Minimum Volume

3 mL whole blood • 3 mL bone marrow • 10 mL amniotic fluid • Cultured cells 75% confluent • 10 mg chorionic villi

Other Acceptable Specimens

Bone marrow collected in: EDTA (lavender-top) tube, EDTA (royal blue-top) tube, ACD (yellow-top) tube, or sodium heparin (green-top) tube • 10 mL amniotic fluid collected in a sterile, leak-proof container • 10 mg chorionic villi collected in a sterile, leak-proof container • Cultured cells (75% confluent minimum) collected in each of two sterile T-25 flasks

Instructions

Do not hold specimen; forward to laboratory when specimen arrives. Contact performing laboratory for stability determination. For any other sample type call 866-GENE-INFO (1-866-436-3463).

Whole Blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.

For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission.
2) Documentation of parental carrier status must be provided.
3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.

Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Amniocyte or Chorionic Villus (CVS) culture: Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.

Dissected Chorionic Villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in a sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Transport Temperature

Room temperature

Specimen Stability

Whole blood
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable

Bone marrow
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

Fetal specimens
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
Next Generation Sequencing

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: Daily; Report available: 43-50 days

Reference Range

See Laboratory Report

Clinical Significance

This test analyzes variants that account for greater than 98% of disease-causing variants. Cystic fibrosis gene sequencing is appropriate for individuals suspected of having cystic fibrosis (CF) but for whom both variants have not been identified with conventional targeted variant testing. CF sequencing as a first line test may also be useful in situations where an individual is symptomatic for CF and initial targeted screening is not desired.

CF sequencing is not recommended as a first-tier test for routine carrier screening for couples who are pregnant or intending to become pregnant. The recommended test for routine CF carrier screening analyzes an expanded number of variants that are known to cause CF. If there are questions about which test is most appropriate, or if a carrier screening panel that includes CF is desired, please see the Quest Test Directory for panel options and/or contact 866-GENE-INFO (866-436-3463) for assistance.

Performing Laboratory

Quest Diagnostics Nichols Institute-San Juan Capistrano, CA

33608 Ortega Highway

San Juan Capistrano, CA 92675-2042

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.