Test Overview
Multiplex Polymerase Chain Reaction (PCR)
This targeted 60-variant CFTR gene assay includes the American College of Medical Genetics and Genomics (ACMG) core panel of 23 variants (2004 version) and an additional 37 disease-causing variants. Intended use is for pan-ethnic carrier screening in individuals with no family history of cystic fibrosis to refine their carrier risk. See http://www.pathology.med.umich.edu/handbook/Tables/CFDXLS_Mutations.pdf for complete listing of the tested variants.
Reference ranges may change over time. Please refer to the original patient report when evaluating results. Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
This test will not detect variants other than the targeted 60 pathogenic variants, thus detection rate is reduced compared to CFTR gene sequencing (Test Code: CFTRS). See below for expected detection rate, carrier rate, and residual carrier risk by ethnicity. The accuracy of reported probabilities are contingent upon the accuracy of the history provided. This test is intended only for carrier screening, not for the diagnosis of cystic fibrosis.
Test Details
14 days
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.
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 pathologist interpretation of results billed as a separate additional charge. This test is not available without interpretation.