Mutations in the CFTR gene cause cystic fibrosis and cystic fibrosis related (CFTR-related) disorders. Over 1700 mutations and 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 CF-EU2v1 from Elucigene, UK. The kit uses the ARMS technique followed by capillary electrophoresis to test for 50 CFTR mutations commonly seen in European populations. The kit can also be used for analysis of the polyT tract in intron 8 of the gene. Data is analysed using GeneMapper 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
|Elucigene CF panel||$254||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)
For urgent and prenatal cases please contact the laboratory
*No direct charge for the central region DHBs covered by the Crown Funding Agreement