The coding exons and associated, adjacent consensus splice sites of the CFTR gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
Analysis for the presence of CFTR mutations in patients with CFTR-related disorders affecting the respiratory tract, pancreas, sweat glands, intestine, male genital tract, and liver; confirmation of a diagnosis of Cystic Fiborsis for patients who had no mutations detected in a targeted mutation analysis for the 23 CF mutations recommended by ACMG/ACOG but have a clinical presentation consistent with Cystic Fibrosis. Ordering the CFDXL diagnostic test before ordering this assay is recommended, especially for patients of Western European ancestry. This assay is also used to confirm a diagnosis of CFTR-related Congenital Absence of the Vas Deferens (CAVD). See GeneReviews CFTR-Related Disorders for additional details about Cystic Fibrosis.
Interpretive report provided.
This assay will not detect large deletions in the CFTR gene or intronic mutations outside the region sequenced in the CFTR gene.
21 - 28 days
- CFTR Gene Seq Shadow
- CFTR Gene Sequencing
- Cystic Fibrosis Gene Sequencing
- Congenital Absence of the Vas Deferens (CAVD)
Please note that ordering the Cystic Fibrosis Diagnostic Mutation Detection assay is recommended prior to the CFTR Gene Sequencing assay, especially for patients of Western European ancestry. 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 medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.