Reference Interval:
By report.
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| Interpretive Data: |
Background information for Cystic Fibrosis (CFTR) 32 Mutations:
Characteristics: Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency, and obstructive azoospermia. Findings are often limited to a single organ system such as isolated pancreatitis, bilateral absence of the vas deferens, nasal polyposis, or bronchiectasis in non-classic cystic fibrosis (CF).
Incidence: 1 in 3,000 Caucasians or Ashkenazi Jewish, 1 in 8,000 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 mutations on opposite chromosomes.
Mutations Tested: G85E, R117H, R334W, R347P, R347H, 394delTT, A455E, I507del, F508del, V520F, G542X, S549N, S549R, G551D, R553X, R560T, 621+1G>T, 711+1G>T, 1078delT, R1162X, W1282X, N1303K, 1717-1G>A, 1898+1G>A, 2183AA>G, 2184delA, 2789+5G>A, 3120+1G>A, 3659delC, 3849+10kbC>T, 3876delA, 3905insT. For specimens positive for R117H, the IVS-8/poly T is analyzed.
Clinical Sensitivity: Ashkenazi Jewish 94 percent; Caucasian 89 percent; Hispanic 73 percent; African American 65 percent; Asian American 55 percent.
Methodology: PCR, oligonucleotide ligation assay (OLA), fluorescent hybridization probes, and capillary electrophoresis.
Analytical Sensitivity & Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer or probe site mutations. Only the 32 CFTR mutations listed above will be interrogated.
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.
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| Note: |
This test includes the 23 CF mutations recommended by the American College of Medical Genetics for population carrier screening.
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| CPT Code(s): |
83891 Isolation; 83900 Amplification; 83901 x30 Multiplex amplification; 83914 x32 OLA; 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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