Mobile Site ›

Test Catalog

Test ID: CFTRK    
CFTR Gene, Known Mutation

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


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


Identification of patients who may respond to CFTR potentiator therapy

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 IDReporting NameAvailable SeparatelyAlways Performed
FBCFibroblast Culture for Genetic TestYesNo
AFCAmniotic Fluid Culture/Genetic TestYesNo
MCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

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

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 previously identified in an affected family member.

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

CFTR Gene, Known Mutation

Aliases Lists additional common names for a test, as an aid in searching

CF (Cystic Fibrosis)
CFTR (Cystic Fibrosis Transmembrane Conductance)
Cystic Fibrosis (CF)
Cystic Fibrosis, Carrier Detection
Cystic Fibrosis, Prenatal Diagnosis