Test ID: CFTRK
CFTR Gene, Known Mutation
Secondary ID 
A test code used for billing and in test definitions created prior to November 2011
Useful For Suggests clinical disorders or settings where the test may be helpful
Diagnostic confirmation of cystic fibrosis when familial mutations have been previously identified
Carrier screening of at-risk individuals when a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene has been identified in an affected family member
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Documentation of the specific familial mutation(s) must be provided with the specimen in order to perform this test.
Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
| Test ID | Secondary ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|---|
| CFLD | 89859 | CFTR Gene, Large Del/Dup | No | No |
| FBC | 80333 | Fibroblast Culture for Genetic Test | Yes | No |
| FUSEQ | 82555 | DNA Sequence, Follow-up Analysis | No | No |
| AFC | 80334 | Amniotic Fluid Culture/Genetic Test | Yes | No |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
When this test is ordered, either FUSEQ/82555 DNA Sequence, Follow-up Analysis or CFLD/89859 CFTR Gene, Large Deletion/Duplication testing will be performed and charged dependent upon the type of mutation previously identified in the family.
Note: This testing algorithm only applies to prenatal testing. If amniotic fluid (non-confluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (non-confluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name A short description of the method used to perform the test
CFTRK/88880, CFLD/89859, FUSEQ/82555: Polymerase Chain Reaction (PCR)/DNA Sequencing and/or dosage analysis (multiplex ligation-dependent probe amplification [MLPA]) is utilized to test for the presence of a specific mutation(s) previously identified in an affected family member
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
FBC/80333, AFC/80334: Cell Culture
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
Aliases Lists additional common names for a test, as an aid in searching
CFTR (Cystic Fibrosis Transmembrane Conductance)
Cystic Fibrosis (CF)
Cystic Fibrosis, Carrier Detection
Cystic Fibrosis, Prenatal Diagnosis
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