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Cystic Fibrosis (CFTR) Full Gene Sequencing and Deletion/Duplication Testing

Cystic fibrosis (CF) is one of the most common autosomal recessive disorders in the Caucasian population, with a carrier frequency of approximately 1 in 25. This condition affects epithelia of the respiratory tract, exocrine pancreas, intestine, male genital tract, hepatobiliary system, and exocrine sweat glands, resulting in complex multisystem disease. Disease expression is variable and can range from mild pulmonary and pancreatic involvement to severe progressive obstructive lung disease with pancreatic insufficiency and early mortality. Affected males are also typically infertile. CF occurs in approximately 1 in 3,200 Caucasian individuals, with a lower frequency in other ethnic and racial populations.

CFTR (cystic fibrosis transmembrane conductance regulator) is the only gene known to be associated with cystic fibrosis. To date, there have been more than 700 mutations and variations identified within the CFTR gene and its regulatory regions. The frequency of each specific mutation varies among different populations, both geographically and ethnically. Sequence analysis of the CFTR gene detects 98% of all mutations reported in the medical and scientific literature, and is an essential tool for detecting more rare, private mutations not screened for in the Genetics Center Cystic Fibrosis Targeted Mutation Panel.

Reasons for Referral

  • Diagnostic clarification for individuals with elevated sweat chloride concentrations or positive newborn screening and only one mutation detected via Targeted Mutation Panel.
  • Carrier testing for partners of known CF carriers in which a mutation was not detected by Targeted Mutation Panel.
  • Carrier testing for individuals with a family history of CF and negative Targeted Mutation Panel.
  • Carrier testing for an individual of non-Caucasian or Ashkenazi ancestry with a family history of CF.

Testing Methods

A large region of the 5’ untranslated region of CFTR is evaluated in this assay along with the coding regions of the gene, intronic splice site regions, and CFTR TG repeat and poly T status.

Turn Around Time

10 days or fewer

Specimen Requirements and Shipping/Handling

Blood: A single tube with 1-5 mL whole blood in EDTA (lavender top).


Store blood at 4°C until shipment. Ship at ambient temperature in an insulated container via overnight delivery within 96 hours of collection.

Send Specimen(s) to:

Genetics Center
211. S Main Street
Suite AA
Orange, CA 92868
Tel: (714)288-3500


CPT Codes

CPT’s: 81223, G0452

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