Test Catalog

Test ID: CFTRZ    
CFTR Gene, Full Gene Analysis, Varies

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 cystic fibrosis transmembrane conductance regulator (CFTR) potentiator therapy

 

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

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

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

 

This test includes next-generation sequencing to evaluate for mutations in the CFTR gene. Sanger sequencing may be performed to confirm detected variants.

Testing Algorithm Delineates situations 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 Library of PDFs including pertinent information and forms related to the test

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

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing (when appropriate) and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

CFTR Gene, Full Gene Analysis

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

CFTRM
CBAVD (Congenital Bilateral Absence of the Vas deferens)
Congenital Bilateral Absence of the Vas deferens (CBAVD)
Cystic Fibrosis (CF)
Cystic Fibrosis Transmembrane Conductance
Pancreatitis
Next Gen Sequencing Test