Cystic Fibrosis: CFTR Targeted Mutation Analysis

Test Information

CFTR targeted analysis is a molecular test used to identify known variants in the gene associated with Cystic Fibrosis.B130

Turnaround Time

4 weeks

CPT Code(s)

81221

Cost

$350

Genes

  • CFTR

Clinical Information

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

The preferred sample type is peripheral blood collected in an EDTA (purple top) tube - at least 2-3ml for pediatric patients and 5-6ml for adult patients. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. 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.

Prenatal Testing Information

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.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with LEARN MORE

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