Cystic fibrosis (CF)

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)

Remarks

• 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

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