Cystic Fibrosis (CFTR) Sequencing

Disorder Cystic Fibrosis (CF)
Gene Names CFTR
Clinical info Cystic fibrosis is a common autosomal recessive disorder that affects many functions of the body such as respiration, endocrine function, and reproduction. Although great strides in treatment have increased the length and quality of life for CF patients, it is nearly always fatal by the fourth decade of life. Sweat chloride testing remains the gold standard for diagnosis of CF, however DNA analysis is indicated not only for CF patients but also for their extended families. In addition to providing information about the specific mutations that cause CF, molecular testing allows rapid detection of cystic fibrosis carriers and can determine if the patient has a pancreatic sufficient or insufficient type of the disease. This information plays a large role in clinical management of the affected individual. Over 2000 variants have been reported in the CFTR gene. The carrier rates of the disorder are 1/25 Caucasians, 1/60 African-Americans, 1/46 Hispanics, 1/90 Asians, and 1/29 in the Ashkenazi Jewish population.
Indications Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.
Detection Over 98% of patients with cystic fibrosis have at least one causative sequence variant in CFTR.
Specimen Requirements 5 to 7 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml
Transport The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 4 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes

Unknown mutation: 81223

Known mutation: 81221

Deletion/Duplication Analysis: 81222

Cost

$1500 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for familial mutations is $1000. Please contact the laboratory for more information.

Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

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Molecular Diagnostic Lab Faculty

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