Cystic Fibrosis (CFTR) Mutation Panel
|Disorder||Cystic Fibrosis (CF)|
|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 1000 mutations have been described 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||The NIH Consensus Development Conference on Genetic Testing for Cystic Fibrosis were published in 1999 recommending for adults with a positive family history of cystic fibrosis, partners of people with CF, couples planning a pregnancy and couples presenting for prenatal care and males with congenital bilateral absence of the vas deferens.
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||GGC’s panel screens for the 32 most common mutations. The detection rate depends upon ethnicity.
Northern European Caucasian: 88%
Ashkenazi Jewish: 94%
African American: 64%
Asian American: 49%
|Specimen Requirements||5 to 10 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||1 week|
|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.|
|Cost||$300 for 32 mutation panel|
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.