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

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

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 CFTRK / CFTR Gene, Known Mutation)


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 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 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 (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. 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 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

The multiplex polymerase chain reaction (PCR)-based assay utilizing the Sequenom Mass ARRAY platform is used to test for mutations associated with cystic fibrosis (106-mutation panel).
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name A shorter/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

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