Cystic Fibrosis D1152H Mutation Analysis
Test code
CPT code(s)*
Clinical significance
Test resources
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
Polymerase Chain Reaction (PCR) • Single Nucleotide Primer Extension
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.
Specimen requirements | |
|---|---|
| Patient preparation | None Specified |
| Preferred specimen(s) | 5 mL whole blood collected in an EDTA (lavender-top) tube |
| Alternative specimen(s) | Whole blood collected in: Sodium heparin (green-top) tube or lithium heparin (green-top) tube • ACD (yellow-top) tube • 10 mg tissue biopsy collected in a sterile container • 10 mL amniotic fluid collected in a sterile plastic leak-proof container • 10 mg chorionic villi collected in a sterile tube filled with sterile culture media cultured cells collected in each of two separate sterile T-25 flasks, 75% confluent |
| Minimum volume | 3 mL whole blood • 10 mL amniotic fluid • 10 mg chorionic villi • 10 mg tissue biopsy |
| Collection instructions | Do not hold specimen; forward to laboratory when specimen arrives. Whole blood: 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 T-25 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 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 container | EDTA (lavender-top) tube |
| Transport temperature | Room temperature |
| Specimen stability | Whole blood Room temperature: 8 days Refrigerated: 8 days Frozen: Unacceptable Amniotic fluid, chorionic villi, cultured cells, tissue biopsy Room temperature: 48 hours Refrigerated: Unacceptable Frozen: Unacceptable |
| Reject criteria | Do not reject |
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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