14 days
Test Updated:
CFDX
Cystic Fibrosis Diagnostic
CFDXLS
CF Diagnostic Mutation Shadow
CFDXL
CF diagnostic Mutation
CFTR (Cystic Fibrosis Transmembrane Conductance Regulator)
CF Diagnostic Mutation Detection
CFTR 60 Variant Targeted Analysis
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Test Overview
Multiplex PCR
Analysis for the presence of 60 cystic fibrosis mutations in newborns and children to confirm a clinical diagnosis of cystic fibrosis. See http://www.pathology.med.umich.edu/handbook/Tables/CFDXLS_Mutations.pdf for listing of 60 CFTR mutations and variants.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Specimen Requirements
Collect specimen in a lavender top tube. Send intact specimen to the lab within 24 hours. 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 by contacting the MMGL Molecular Genetics Laboratory at 615-2429 during business hours Monday - Friday or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
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 a completed Cystic Fibrosis Requisition available online at http://www.mlabs.umich.edu/files/pdfs/REFR_Cystic_Fibrosis_Requisition… with the specimen. 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….
