Test Overview
The coding exon or a part of the coding exon containing the CFTR familial mutation is amplified using specific primers and bidirectionally sequenced using a fluorescent method.
CFTR targeted sequencing can be performed on a patient with a known familial mutation. If CFTR sequencing that detected the familial mutation was not performed at MMGL Molecular Genetics Lab, then please send a copy of the clinical laboratory report that documents the familial mutation.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
This analysis will not identify mutations in the regulatory elements, deep intronic regions or coding regions of CFTR that are not covered by this targeted test. This assay may not detect large deletion or duplication mutations and balanced translocations involving CFTR gene.
Test Details
28 days
- Cystic Fibrosis Targeted Sequencing
- CFTR Targeted Mutation Analysis
- CFTR Gene Sequencing Familial
Specimen Requirements
Collect blood specimen in a EDTA lavender top tube. Send it within 24 hours if stored at room temperature or within 5 days if stored refrigerated.
Fill out a MLabs Molecular test requisition (or place an e-order if applicable):
https://mlabs.umich.edu/media/166
Fill out a Clinical History Form for Insurance Prior Authorization (include all required documentation indicated at the bottom of this form):
https://mlabs.umich.edu/sites/default/files/2020-08/file/mlab11618clini…
Fill out a UMHS Request and Consent for Genetic Testing form:
https://mlabs.umich.edu/sites/default/files/2023-04/file/germline-conse…
Michigan State law requires the ordering provider to obtaining informed consent from the patient prior to prognostic or predictive genetic testing. Contact a MLabs Client Services Center at 800-862-7284 to request paper copies or to setup a client account.
Saliva kit (Oragene OGD-510), follow collection instructions.
2-36°C for saliva
Additional Information
By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.