- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics of Nonclassic Cystic Fibrosis (CF): Findings are often limited to a single organ system such as isolated pancreatitis, bilateral absence of the vas deferens, nasal polyposis, or bronchiectasis.
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 mutations.
Cause of Nonclassic CF: Typically one severe and one mild/moderate 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. The IVS-8/poly T variant is also 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: Diagnostic errors can occur due to rare sequence variations. Only the 32 CFTR mutations listed above, and the IVS-8 poly T site, will be interrogated.
See Compliance Statement C: www.aruplab.com/CS
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|0050603||Cystic Fibrosis (CFTR) R117H and 5T||34729-4|
|0051151||Cystic Fibrosis Symptom||56831-1|
|0055454||Cystic Fibrosis (CFTR) Atypical, Allele1||42938-1|
|0055456||Cystic Fibrosis (CFTR) Atypical, Allele2||42939-9|
|0056003||Cystic Fibrosis (CFTR) 5T Mutation||43370-6|
|0056037||Cystic Fibrosis Ethnicity||32624-9|
|0056039||Cystic Fibrosis Family History||10157-6|
|2002133||Cystic Fibrosis (CFTR) Atypical, Spcm||31208-2|
|2002134||Cystic Fibrosis (CFTR) Atypical, Interp||50398-7|
- nonclassic CF variants