CYSTIC FIBROSIS
Background
Pathogenic variants in the CFTR gene cause cystic fibrosis and cystic fibrosis related (CFTR-related) disorders. Over 2000 variants in the CFTR gene have now been reported and many of these have only been described in one patient/family. In many laboratories, testing is therefore restricted to the most common mutations. The incidence, and therefore carrier frequency, of cystic fibrosis varies among different populations. Assuming a Caucasian background, the prevalence is 1 in 2500 and carrier frequency 1 in 25.
Testing at WRGL
Mutation analysis is performed using a commercially available kit, Yourgene® Cystic Fibrosis Base, from Yourgene Health, UK. The kit uses the ARMS technique followed by capillary electrophoresis to test for 50 pathogenic CFTR variants commonly seen in European populations. The kit can also be used for analysis of the polyGT/polyT tract in intron 9 of the gene. Data is analysed using GeneMarker software. Results are compared with positive and negative controls.
More comprehensive mutation testing is not offered at WRGL and samples will be forwarded to another laboratory if additional testing is required/necessary.
Cost, Sample Requirements & Turnaround Times
Test |
Cost NZD* |
Sample Requirements |
Current TAT |
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| Yourgene Cystic Fibrosis Base | $267 | Adults: 4 ml in EDTA (purple top) Children: 1-2 ml in EDTA (purple top) For newborns and very young babies supply 1 ml EDTA (purple top) |
2 weeks For urgent and prenatal cases please contact the laboratory |
*No direct charge for the central region DHBs covered by the Crown Funding Agreement
Cystic Fibrosis testing
ABOUT USWellington Regional Genetics Laboratory (WRGL) provides a comprehensive, integrated diagnostic cytogenetic and molecular genetic testing service
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CONTACT US(04) 918-5352wrgl@ccdhb.org.nz Please note that genetic test results are only released directly to the referring clinician and not to patients |
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