Cystic Fibrosis Transmembrane Conductance Regulator, CFTR, Full Gene Analysis, Varies
Use
This test is useful for follow-up testing to identify variants in individuals with a clinical diagnosis of cystic fibrosis (CF), identifying genetic variants in individuals with atypical presentations of CF, and identifying genetic variants where detection rates by targeted variant analysis are low or unknown. Identifying patients who may respond to cystic fibrosis transmembrane conductance regulator (CFTR) potentiator therapy may also be part of its clinical purpose.
Special Instructions
This test is not the preferred test for cystic fibrous carrier screening. Additional testing requirements indicate that all prenatal specimens must be accompanied by a maternal blood specimen. For cord blood specimens, maternal cell contamination (MCC) studies are available. Consultation with the laboratory is required for all prenatal testing, with instructions available by calling 800-533-1710.
Limitations
Next-generation sequencing may not detect all types of genomic variants. Technical limitations include regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. The test is validated to detect 95% of deletions up to 75 base pairs and insertions up to 47 base pairs. However, Delins of 40 or more bp including mobile element insertions may be less reliably detected. The test may not detect low levels of mosaicism or differentiate between somatic and germline variants. Reclassification of variants is not routine, and if the patient has had an allogeneic hematopoietic stem cell transplant, results may be inaccurate.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 90256-9
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 18771-6
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | preferred |