Cystic Fibrosis (CFTR) Deletion/Duplication
0051642
Ordering Recommendation
This is a second tier test and REQUIRES PERMISSION from  ARUP's Genetic Counselor (800-242-2787, x2141) before ordering.  Preferred test is Cystic Fibrosis (CFTR) Sequencing with Reflex to Deletion/Duplication (0051640).
Mnemonic
CFTRDELDUP
Methodology
Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 14 days  
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
  
Remarks
Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services at (800) 522-2787.  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
   
Interpretive Data
Background Information for Cystic Fibrosis Deletion and Duplication:
Characteristics:
Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency, and obstructive azoospermia.
Background Information for Cystic Fibrosis (CFTR) Deletion/Duplication:
Characteristics:
Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency, and obstructive azoospermia.
Incidence:
1 in 3000 Caucasians or Ashkenazi Jewish, 1 in 8000 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 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.
Method:
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.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81222
Components
Component Test Code*Component Chart Name
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.
Aliases
  • CFTR deletion/duplication assay
  • CFTRMLPA (Cystic Fibrosis (CFTR) Deletion/Duplication)