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.
This assay will detect 60 cystic fibrosis transmembrane conductance regulator mutations; this test is not indicated for use in fetal diagnostic or pre-implantation testing.
- 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
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….
Cystic Fibrosis is an autosomal recessive disorder. This assay can detect 23 CF mutations recommended by ACMG/ACOG, the 1078delT mutation, and 16 of the world’s most common and North American prevalent mutations, and an additional 21 known mutations. Most of the 1300 mutations discovered in CFTR were found just once or a few cases. Many of these mutations are point mutations or small deletions (1 - 84 base pairs). The loss of phenylalanine at amino acid 508 (delta F508) is the most common three base pair deletion. This mutation accounts for 30 to 88 percent of all CF mutations, depending on the ethnic group (Noone, Hamblett et al. 2001). Frequencies of other mutations also vary by ethnicity. 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.