ARUP's Laboratory Test Directory

0051642: Cystic Fibrosis (CFTR) Deletion/Duplication

[ image for: Patient History For Cystic Fibrosis]
Patient History For Cystic Fibrosis
  

Test Mnemonic: CFTRDELDUP
Methodology: Multiplex Ligation Probe Amplification

Performed: Varies

Reported: Within 14 days

Specimen Required:  
Collect: One 3 mL lavender (EDTA), pink (K2EDTA) or yellow (ACD Solution A or B).

Transport: 3 mL whole blood at 2-8°C. (Min: 2 mL)

Pediatric Collection/Transport: 2 mL whole blood at 2-8°C.

Remarks: Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services. 

Stability: Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable

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 Detected:
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.



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.



CPT Code(s):
83891 Isolation; 83896 Nucleic Acid Probes; 83898 Amplification; 83914 Extension; 83909 Capillary Electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.

 

 

 
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