Reference Interval:
By report
|
| Interpretive Data: |
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.
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.
|
|
![[ image for: Patient History For Cystic Fibrosis]](icon_18.jpg){kind=icon}