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Test ID: CFTRM    
CFTR Gene, Full Gene Analysis

Secondary ID A test code used for billing and in test definitions created prior to November 2011

88876

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

Conditional

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

Follow-up testing to identify mutations in individuals with a clinical diagnosis of cystic fibrosis (CF) and a negative targeted mutation analysis for the common mutations

 

Identification of mutations in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or pancreatitis)

 

Identification of mutations in individuals where detection rates by targeted mutation analysis are low or unknown for their ethnic background

 

Identification of patients who may respond to CFTR potentiator therapy

 

This is not the preferred genetic test for carrier screening or initial diagnosis. For these situations, order CFPB / Cystic Fibrosis Mutation Analysis, 106-Mutation Panel.

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

Not the preferred first-tier molecular test for carrier screening or diagnosis. Used to identify mutations in individuals with a clinical diagnosis of cystic fibrosis (CF) when CFPB / Cystic Fibrosis Mutation Analysis, 106-Mutation Panel is negative or uninformative.

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

See Cystic Fibrosis Molecular Diagnostic Testing Algorithm in Special Instructions for additional information.

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/Dosage Analysis (Multiplex Ligation-Dependent Probe Amplification [MLPA])
(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

CFTR Gene, Full Gene Analysis

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

CBAVD (Congenital Bilateral Absence of the Vas deferens)
Congenital Bilateral Absence of the Vas deferens (CBAVD)
Cystic Fibrosis Transmembrane Conductance
Pancreatitis
Cystic Fibrosis (CF)