NL
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:
- Comprehensive preconception carrier test panel¹
- Liver disorders panel
- Male infertility panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Primary immunodeficiencies panel
- Skin disorders panel¹
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)
- Exome analysis (WES or WGS data)
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:
- Comprehensive preconception carrier test panel¹
- Liver disorders panel
- Male infertility panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Primary immunodeficiencies panel
- Skin disorders panel¹
Turnaround time
4 weeks
Method
- Targeted analysis of one or more variants
- Exome analysis (WES or WGS data)
- 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
