CFTR - cystic fibrosis
This test is available for the following conditions:
- Conditions > Lung diseases > Cystic fibrosis (CF)
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES liver disorders (% *)
- WES male infertility (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES primary immunodeficiencies (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
- Whole exome sequencing (WES)
Analysis of the whole CFTR gene is performed with WES, interpreting only variants (nucleotide and copy numbers) in this gene. It is possible to request a WES gene panel at the same time or afterwards. Please note the turnaround time of the WES panel. For targeted analysis of familial abnormalities, Sanger sequencing or MLPA is used.
OMIM:
602421
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFTR - cystic fibrosis (analysis of common mutations)
This test is available for the following conditions:
- Conditions > Lung diseases > Cystic fibrosis (CF)
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES liver disorders (% *)
- WES male infertility (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES primary immunodeficiencies (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
4 weeks
Method
- Targeted analysis of one or more variants
- Whole exome sequencing (WES)
- For confirmation of carrier status (in case of a fetal echogenic bowel or unknown familial mutation), the 50 most frequent European and Dutch mutations/variants in the CFTR gene will be tested.
- In case of confirmation of a clinical diagnosis, analysis of the whole CFTR gene is performed with WES, interpreting only variants (nucleotide and copy numbers) in this gene. It is possible to request a WES gene panel at the same time or afterwards. Please note the turnaround time of the WES panel.
- For targeted analysis of a (known) familial mutation, Sanger sequencing or MLPA is used.
OMIM:
602421
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane