| Interpretive Data: |
Background Information for Cystic Fibrosis Deletion and Duplication:
Characteristics: Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency, and obstructive azoospermia.
Background Information for Cystic Fibrosis (CFTR) Deletion/Duplication:
Characteristics: Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency, and obstructive azoospermia.
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 deleterious CFTR mutations on different chromosomes. Two severe mutations result in classical symptoms of cystic fibrosis, while one severe and one mild mutation results in atypical symptoms.
Mutations Detected: Large gene rearrangements (deletions and duplications).
Clinical Sensitivity: Approximately 1-2% of CFTR mutations are large deletions or duplications.
Method: Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large CFTR coding region deletions/duplications.
Analytical sensitivity and specificity: 90% and 98%, respectively.
Test Limitations: Deletion/duplication breakpoints will not be determined. CFTR single base pair substitutions, small deletions/duplications, and deep intronic and promoter mutations will not be detected. Mutations within the primer/probe regions could affect the analytical sensitivity of this assay.
Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
|
| CPT Code(s): |
83891 Isolation; 83896 Nucleic Acid Probes; 83898 Amplification; 83914 Extension; 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}