Test Overview
The entire coding sequences (exons plus at least 15 bp upstream and 15 bp downstream of each coding exon) of the targeted genes are captured, sequenced using NGS and aligned to the human reference genome. A minimum NGS coverage of 20X for all coding exons is achieved. Copy number variation is assessed by coverage depth within the targeted regions compared to a normalized set of controls. Copy number variants within the targeted regions that are of potential clinical significance will be reported. All reported variants of potential clinical significance will be confirmed by a different technology or platform.
This test is used to detect the presence of CFTR (OMIM:602421) deletions and duplications. CFTR gene deletion and duplication analysis can be performed on patients with only one or no CFTR mutations detected by sequence analysis but have a clinical presentation consistent with CFTR-related disorders or on relatives of a patient with a known CFTR deletion/duplication mutation. Currently the deletion and duplication detections rates in different population groups are not known.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
This assay will not detect point mutations or frame-shift mutations in the CFTR gene.
Test Details
14 - 21 days
- CFTDS
- CFTR Del/Dup Analysis Shadow
- CFTD
- CFTR Deletion/Duplication Aly
- CFTR Gene Deletion and Duplication Analysis
- Cystic Fibrosis Deletion
- Cystic Fibrosis Duplication
Specimen Requirements
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/media/188.
Additional Information
CFTR gene deletion and duplication testing is also a component (Tier 2) of the CFTR Gene Panel test. 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.