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

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

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

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
Kellie Walden, MS, CGC

Molecular Testing, Targeted Analysis, Targeted Known Variant Testing
Meet the Shenal Family

Meet the Shenal Family

Our daughter, Ryleigh, was diagnosed with a rare chromosomal deletion shortly after she was born in 2010. Since we received her diagnosis, the Greenwood Genetic Center has become part of our family. They made certain that we did not feel alone, and they continue to provide ongoing, compassionate care for our child. The impact they have had on our family and others across the globe everyday is immeasurable. We can't imagine walking this journey without their...

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