Cystic Fibrosis (CFTR) Deletion/Duplication
Ordering Recommendation

Use to detect a known large familial CFTR deletion or for symptomatic individuals who do not have 2 pathogenic variants detected by sequencing. This is a second tier test that REQURIES PERMISSION from an ARUP genetic counselor (800-242-2787, x 2141) before ordering.

Multiplex Ligation-dependent Probe Amplification
Within 14 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL)  
Storage/Transport Temperature
Unacceptable Conditions
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  
Reference Interval
Interpretive Data
Background Information for Cystic Fibrosis Deletion and Duplication:
Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency, and obstructive azoospermia.
Background Information for Cystic Fibrosis (CFTR) Deletion/Duplication:
Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency, and obstructive azoospermia.
1 in 3000 Caucasians or Ashkenazi Jewish, 1 in 8000 Hispanics, 1 in 15,000 African-Americans, 1 in 32,000 Asians.
Autosomal recessive.
High for severe mutations, variable for mild mutations.
Two deleterious CFTR mutations on different chromosomes. Two severe mutations result in classical symptoms of cystic fibrosis, while one severe and one mild mutation results in atypical symptoms.
Mutations Tested:
Large gene rearrangements (deletions and duplications).
Clinical Sensitivity:
Approximately 1-2% of CFTR mutations are large deletions or duplications.
Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large CFTR coding region deletions/duplications.
Analytical sensitivity and specificity:
90% and 98%, respectively.
Test Limitations:
Deletion/duplication breakpoints will not be determined. CFTR single base pair substitutions, small deletions/duplications, and deep intronic and promoter mutations will not be detected. Mutations within the primer/probe regions could affect the analytical sensitivity of this assay. Diagnostic errors can occur due to rare sequence variations.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
CPT Code(s)
Component Test Code*Component Chart NameLOINC
0051643Cystic Fibrosis Deletion/Duplication
2001347CFTRDELDUP Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • CFTR deletion/duplication assay
  • CFTR MLPA (Cystic Fibrosis (CFTR) Deletion/Duplication)