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Clinical Diagnostics

Cystic fibrosis

Cystic fibrosis (CF) is a chronic genetic condition involving multiple organ systems. Two defective CF alleles cause the body to produce abnormally thick, sticky mucus that clogs the lungs and leads to life-threatening infections. Classical CF primarily involves the respiratory and digestive systems, and may have a range of clinical severity. Pulmonary symptoms often include lower airway inflammation, chronic cough, sinusitis, and recurrent infections. People with CF have a variety of other symptoms including high sweat chloride levels, persistent coughing, wheezing or shortness of breath, and excessive appetite but poor weight gain. Thick secretions also obstruct the pancreas and prevent digestive enzymes from reaching the intestines to help break down and absorb food, digestive symptoms often include meconium ileus, pancreatic insufficiency resulting in malabsorption and/or failure to thrive, and hepatobiliary disease. CF mutations may also lead to congenital bilateral absence of the vas deferens (CBAVD) and infertility. Sweat chloride testing has a clinical sensitivity of 90 percent in classic CF and is considered the gold standard for diagnosis. Individuals with nonclassic CF may have clinical findings limited to a single organ system, such as idiopathic pancreatitis, bilateral absence of the vas deferens, nasal polyposis, or bronchiectasis. Nonclassic CF often presents in adulthood and may not decrease life expectancy. Sweat chloride values in individuals with nonclassic CF are often border-line but may also be elevated or in the normal range.

Available Tests
CFTR-DeltaF508 CFTR-32 CFTR-95 CFTR-Whole Gene Sequencing

Info Sheet 
Test Information
Genes: CFTR
Clinical Utility: - Patients with a clinical diagnosis of Cystic Fibrosis or CBAVD.
- Individuals suspected to be carriers based upon family history.
Method: PCR Amplification followed by Capillary Sequencing
Test ID: 2002
Turn-around Time: 2 Weeks
Preferred Specimen: Blood (2-5 mL whole blood in lavender top tube (EDTA)). Also accept buccal swabs.
Click Here for Specimen Collection and Shipping
CPT Codes: 81479x1
Billing Information: View Billing Information
  1. CFTR database at Toronto Hospital for Sick Children.
  2. Moskowitz, et.al. (2008). "CFTR-Related Disorders." GeneReviews. PubMed ID: 20301428.
  3. What is cystic fibrosis? National Heart, Lung, and Blood Institute.
  4. Genetics Home Reference: Cystic fibrosis. National Library of Medicine.
  5. Johns Hopkins Cystic Fibrosis Center.