Reference Interval:
By report
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| Interpretive Data: |
Background information for Cystic Fibrosis (CFTR) 32 Mutations with Reflex to Sequencing:
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 of Classic CF: 1 in 3,000 Caucasians or Ashkenazi Jewish, 1 in 8,000 Hispanics, 1 in 15,000 African Americans, 1 in 32,000 Asians.
Incidence of Nonclassic CF: Unknown.
Inheritance: Autosomal recessive.
Penetrance: High for severe mutations, variable for mild/moderate mutations.
Cause of Classic CF: Two deleterious CFTR mutations on opposite chromosomes.
Cause of Nonclassic CF: Typically one severe and one mild/moderate CFTR mutations on opposite chromosomes.
Mutations Tested in Panel: 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 by sequencing.
Clinical Sensitivity for reflex: 97 percent.
Methodology for Panel: PCR, oligonucleotide ligation assay (OLA), fluorescent hybridization probes, and capillary electrophoresis.
Methodology for Sequencing: Bidirectional sequencing of the CFTR coding region and intron-exon boundaries.
Analytical Sensitivity & Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer or probe site mutations. CFTR promoter mutations and large gene deletions/duplications will not be detected.
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: |
If the CF 32 mutation panel identifies less than two deleterious mutations, CFTR gene sequencing will be performed. IVS-8/poly T is evaluated by sequencing.
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| CPT Code(s): |
83891 Isolation; 83900 Multiplex amplification; 83901 x30 Additional amplification; 83914 x32 OLA; 83909 Capillary electrophoresis; 83912 Interpretation and report. If reflexed to sequencing, add 83891 Isolation; 83898 x32 Amplification; 83904 x32 Sequencing; 83909 Capillary electrophoresis - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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