Cystic Fibrosis Diagnostic
CF Diagnostic Mutation Shadow
CF diagnostic Mutation
CFTR (Cystic Fibrosis Transmembrane Conductance Regulator)
CF Diagnostic Mutation Detection
CFTR 60 Variant Targeted Analysis
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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.
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….