Multiplex Polymerase Chain Reaction (PCR)
This targeted 60 variant CFTR cystic fibrosis assay includes the American College of Medical Genetics and Genomics (ACMG) core panel of 23 variants and an additional 37 disease causing variants for pan-ethnic carrier screening in individuals with no family history of disease and is used 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.
This test will not detect variants other than the targeted 60 pathogenic variants. 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.
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
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.