Cystic Fibrosis, CFTR Gene, Variant Panel, Varies
Use
This test is essential for confirming a clinical diagnosis of cystic fibrosis and is useful for reproductive risk refinement through carrier screening in the general population and for individuals with a family history when familial variants are not accessible. Additionally, it identifies patients who may benefit from CFTR potentiator therapy, addressing genetic variants related to cystic fibrosis. This test includes targeted testing to evaluate over 500 genetic variants, including 23 disease-causing variants recommended by the ACMG, making it a comprehensive tool for diagnosing and managing CF.
Special Instructions
Not provided.
Limitations
While this assay is designed to detect more than 500 CF-linked genetic variants, it will not detect all possible CFTR-related disorder variants. A negative result doesn't completely rule out carrier status due to possible variants not included in this panel or false negatives. Variant interpretation relies on ACMG guidelines, but unknown significance variants could be identified, prompting further consultation.
New York Approved
Methodology
Microarray
Biomarkers
LOINC Codes
- 38404-0 - CFTR Mut Anl Bld/T
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 31208-2 - Specimen source
- 18771-6 - Provider signing name
Result Turnaround Time
7-21 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.