| 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.
See Compliance Statement C: www.aruplab.com/CS
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| CPT Code(s): |
81222
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Cross References: |
CFTR MLPA (Cystic Fibrosis (CFTR) Deletion/Duplication)
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