ARUP's Laboratory Test Directory
| 0051110: Cystic Fibrosis (CFTR) Sequencing |
![[ image for: Patient History For Cystic Fibrosis]](icon_18.jpg){kind=icon} | Patient History For Cystic Fibrosis |
| Test Mnemonic: CF-CFTR | |
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Methodology: Polymerase Chain Reaction/Scanning/Sequencing
Performed: Mon-Sat Reported: 19-28 days |
| Specimen Required: | |
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Collect: One 3 mL lavender (EDTA), pink (K2EDTA) or yellow (ACD Solution A or B).
Transport: 3 mL whole blood at 2-8°C. (Min: 2 mL) Pediatric Collection/Transport: 2 mL whole blood at 2-8°C. Remarks: Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services. Stability: Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable |
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| Reference Interval: |
| By report |
| Interpretive Data: | |
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Background Information for Cystic Fibrosis (CFTR) Sequencing: Characteristics: Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency and obstructive azoospermia; atypical cystic fibrosis is often limited to a single organ system. Incidence: 1 in 3000 Caucasians or Ashkenazi Jewish, 1 in 8000 Hispanics, 1 in 15,000 African Americans, 1 in 32,000 Asians. Inheritance: Autosomal recessive. Penetrance: High for severe mutations, variable for mild mutations. Cause: Two CFTR gene mutations on different chromosomes; atypical CF often caused by two mild mutations, one mutation and one variant or a severe mutation and a variant. Mutations Detected: Point mutations and small insertions/deletions within the coding region and intron/exon boundaries. Methods: Bidirectional sequencing of the entire CFTR coding region and intron/exon boundaries. Analytical Sensitivity and Specificity: 99%. Clinical Sensitivity: 97% Limitations: Large gene deletions/duplications will not be detected. Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com. Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory. |
| Note: | |
| This test is offered for affected individuals only. Please consult with ARUP Genetic Counselors for appropriate use of test. |
| CPT Code(s): | |
| 83891 Isolation; 83898 x30 Amplification; 83904 x30 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report. Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders. |