For individuals with suspected CF but without 2 pathogenic variants detected by the CF 165 pathogenic variants test. This test is NOT indicated for routine obstetric carrier screening.
Polymerase Chain Reaction/Sequencing
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services at (800) 522-2787.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Background Information for Cystic Fibrosis (CFTR) 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.
Clinical Sensitivity: 97 percent.
Methodology: Bidirectional sequencing of the entire CFTR coding region, intron-exon boundaries, and two deep intronic mutations.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, large gene deletions/duplications and some deep intronic mutations will not be detected.
Laboratory Developed Test (LDT)
This test is offered for affected individuals only. Please consult with ARUP Genetic Counselors for appropriate use of test.
|Component Test Code*||Component Chart Name||LOINC|
|0051111||Cystic Fibrosis (CFTR) Sequencing||21654-9|
|2001345||CF CFTR Specimen||31208-2|
- CFTR sequencing