Cystic Fibrosis
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000074114.6
- Last updated: 2023-02-08
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Cystic fibrosis
Offered by Molecular Genetics Laboratory
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Cystic Fibrosis (CFTR)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Mutation Confirmation, Pre-symptomatic, Diagnosis, Risk Assessment
Click Indication tab for more information.
Please complete the requisition found on the web site and ensure it is signed by the referring physician.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: http://www.lhsc.on.ca/palm/molecular/test.html
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- TTargeted variant analysis
- PCR reaction, SAP addition, and iPLEX HS® extension reaction
Establish or confirm diagnosis
- Cystic Fibrosis - PubMed ID: 20301428
- https://www.ncbi.nlm.nih.gov/books/NBK1250
Reproductive decision-making
- Cystic Fibrosis - PubMed ID: 20301428
- https://www.ncbi.nlm.nih.gov/books/NBK1250
Predictive risk information for patient and/or family members
- Cystic Fibrosis - PubMed ID: 20301428
- https://www.ncbi.nlm.nih.gov/books/NBK1250
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
Testing strategy
HelpThe lab's suggested sequence of ordering tests based on clinical scenarios. It may include information on: reflex testing including each test component, and scenarios which prompt additional components of testing; whether lab communicates interim results or automatically proceeds to further analyses; and if any components are performed in another laboratory.iPlex Pro 74 target panel provided by Agena 000 Please complete the requisition found on the web site and ensure it is signed by the referring physician.
Test services
HelpLaboratory's order or catalog code for the test (used in the order requisition form).- Clinical Testing/Confirmation of Mutations Identified Previously
- Confirmation of research findings
- Custom Prenatal Testing
- Custom mutation-specific/Carrier testing
- Wainwright et al., 2015Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR.
- Accurso et al., 2010Effect of VX-770 in Persons with Cystic Fibrosis and the G551D-CFTR Mutation
- DailyMed Drug Label, 2022DailyMed Drug Label, KALYDECO- ivacaftor tablet, 2022
- ACMG ACT, 2012American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, No Mutations Detected by Carrier Screening, Cystic Fibrosis (CF), 2012
- ACMG ACT, 2012American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated IRT +/- DNA, Cystic Fibrosis, 2012
- ACMG ACT, 2012American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, CFTR Mutations except R117H, Cystic Fibrosis (CF), 2012
- ACMG ACT, 2012American College of Medical Genetics and Genomics Carrier Screening ACT Sheet, Cystic Fibrosis R117H, 2012
- ACMG ACT, 2011American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders
- ACMG Algorithm, 2006American College of Medical Genetics and Genomics, Algorithm, Immunoreactive Trypsinogen (IRT Elevated), 2006
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