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



€ 320
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Gene

CFTR - cystic fibrosis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
€ 687
View Add

CFTR - cystic fibrosis


€ 687
Add

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)

OMIM: 602421
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 687
Add
Gene

CFTR - cystic fibrosis (analysis of common mutations)

Turnaround time
4 weeks
Performing laboratory
Radboudumc
€ 320
View Add

CFTR - cystic fibrosis (analysis of common mutations)


€ 320
Add