Cystic Fibrosis Complete Rare Variant Analysis, Entire Gene Sequence

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This test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.

Testing performed at Quest Diagnostics.

Test Code

CF RARE MUTATION(O)

CPT Codes
81223

Physician Attestation of Informed Consent

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test 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), EDTA (royal blue-top), ACD (yellow-top) or sodium heparin (green-top) tube

Minimum Volume

3 mL whole blood
3 mL bone marrow
10 mL amniotic fluid
10 mg chorionic villi

Other Acceptable Specimens

Bone marrow collected in: EDTA (lavender-top), EDTA (royal blue-top), ACD (yellow-top) 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

Cystic fibrosis (CF) is the most common recessive lethal genetic disorder affecting primarily Caucasians of Northern European descent, with an incidence of approximately 1 in 3300 births and a carrier rate of 1 in 29. This test analyzes approximately 1000 variants that account for greater than 98% of disease causing variants. This test is only appropriate when there is a strong likelihood of cystic fibrosis and the variant is not detected in the general cystic fibrosis variant panel and familial variants are unknown.

Last Updated: September 8, 2014

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.