CFP - Overview: Cystic Fibrosis Mutation Analysis, 106-Mutation Panel

Test Catalog

Test Name

Test ID: CFP    
Cystic Fibrosis Mutation Analysis, 106-Mutation Panel

Useful For Suggests clinical disorders or settings where the test may be helpful

Confirmation of a clinical diagnosis of cystic fibrosis


Risk refinement via carrier screening for individuals in the general population


Prenatal diagnosis or familial mutation testing when the familial mutations are included in the 106-mutation panel listed above (if familial mutations are not included in the 106-mutation panel, order FMTT / Familial Mutation, Targeted Testing)


Risk refinement via carrier screening for individuals with a family history when familial mutations are not available


Identification of patients who may respond to CFTR potentiator therapy

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

106-Mutation panel includes the 23 mutations recommended by the American College of Medical Genetics (ACMG).

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situations 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/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added. 


See Cystic Fibrosis Molecular Diagnostic Testing Algorithm in Special Instructions.

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

Method Name A short description of the method used to perform the test

The multiplex polymerase chain reaction (PCR)-based assay utilizing the Agena Mass ARRAY platform is used to test for mutations associated with cystic fibrosis (106-mutation panel).

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


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

Cystic Fibrosis Mutation Panel

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

CFTR (Cystic Fibrosis Transmembrane Conductance)
Congenital Bilateral Absence of the Vas deferens
Cystic Fibrosis Transmembrane Conductance Regulator
Cystic Fibrosis, Prenatal Diagnosis