21 - 28 days
CFTR Gene Seq Shadow
CFTR Gene Sequencing
Cystic Fibrosis Gene Sequencing
Congenital Absence of the Vas Deferens (CAVD)
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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.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
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….