For Tier 1, 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. For Tier 2, MLPA probes hybridize to target all coding-exons of the CFTR gene and are amplified by multiplex PCR. The amplification products are analyzed by capillary electrophoresis and copy numbers for these CFTR targeted regions are generated.
The CFTR Panel is used to detect the presence of CFTR mutations in patients with CFTR-related disorders affecting the respiratory tract, pancreas, sweat glands, intestine, male genital tract, and liver, and for the confirmation of a diagnosis of Cystic Fibrosis in 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. CFTR gene Panel testing consists of CFTR full gene sequencing (Tier 1) and if only one or no CFTR mutation is detected, then CFTR gene deletion and duplication analysis (Tier 2) is performed. This assay is also used to confirm a diagnosis of CFTR-related Congenital Absence of the Vas Deferens (CAVD).
Interpretive report provided.
This assay will not detect intronic mutations outside the region sequenced in the CFTR gene or large deletions/duplications outside the CFTR gene.
- CFTR Panel
- CFTR Panel Shadow
- Cystic Fibrosis Gene Panel
- Congenital Absence of the Vas Deferens (CAVD)
- CFTR Gene Sequencing
- CFTR Deletion
- CFTR Duplication
- CFTR Sequencing
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….
CFTR Gene Panel (order code CFT1S) includes CFTR full gene sequencing (Tier 1), and if only one or no CFTR mutation is detected CFTR gene deletion and duplication analysis is performed (Tier 2). By ordering this test the clinician acknowledges that additional reflex testing will be performed and billed at a separate additional charge if indicated. 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.