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Reference Interval:
#ExistRefRange>By report
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#ExistInterpDataSet>
| Interpretive Data: |
#ExistInterpData>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.
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#ExistNote>
| Note: |
This test is offered for affected individuals only. Please consult with ARUP Genetic Counselors for appropriate use of test.
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#ExistCPT>
| 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.
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