| Interpretive Data: |
Background information for Cystic Fibrosis (CFTR) 32 Mutations, Fetal
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.
For quality assurance purposes, ARUP Laboratories will confirm the above result at no charge following delivery. Order Confirmation of Fetal Testing and include a copy of the original fetal report (or the mother's name and date of birth) with the test submission. Please contact an ARUP genetic counselor at (800) 242-2787 extension 2141 prior to specimen submission.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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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 Multiplex amplification; 83901 x30 Additional amplification; 83914 x32 Mutation identification by OLA; 83909 Capillary electrophoresis; 83912 Interpretation and report. FCC: 83900 Multiplex amplification; 83901 x14 Additional amplification; 83909 Capillary electrophoresis. If MCC Maternal Cell (0050608) is performed, add: 83891 Isolation; 83900 Multiplex amplification; 83901 x14 Additional amplification; 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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