Cystic Fibrosis Complete Rare Variant Analysis, Entire Gene Sequence
Test code
CPT code(s)*
Clinical significance
Test resources
Algorithm
Test guide
Details
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
Methodology
Next Generation Sequencing
Assay category
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.
Alternative name(s)
Cystic Fibrosis Sequencing,CF Complete™,Cystic Fibrosis Rare Mutation Analysis,CFTR Gene Sequencing,CF Rare Mutation Analysis,Cystic Fibrosis Entire Gene Sequencing,CF Entire Gene Sequencing,CF Sequencing
Specimen requirements | |
|---|---|
| Patient preparation | None Specified |
| Preferred specimen(s) | 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 |
| Alternative specimen(s) | Bone marrow collected in: EDTA (royal blue-top) tube, ACD (yellow-top) tube, or sodium heparin (green-top) tube • Fetal specimens: 10 mL amniotic fluid collected in a sterile leak-proof container • Amniocyte or chorionic villus (CVS) culture cells collected in each of two sterile T25 flasks • 10 mg dissected chorionic villus (CVS) biopsy collected in sterile tube filled with sterile culture media |
| Minimum volume | 3 mL whole blood • 3 mL bone marrow • 10 mL amniotic fluid • Cultured cells 75% confluent • 10 mg chorionic villi |
| Collection instructions | Do not hold specimen; forward to laboratory when specimen arrives. 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. |
| Transport container | EDTA (lavender-top) tube |
| 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 |
Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.
*The CPT codes provided are based on AMA guidance and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
This material contains content from LOINC® (http://loinc.org). The LOINC Table, LOINC Table Core are copyright © 1995-2019, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license.
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