NBN - Nijmegen breakage syndrome

This test is available for the following conditions:

  • Conditions > Intellectual Disability > Nijmegen breakage syndrome (NBS)
  • Conditions > Multiple congenital anomalies (MCA) > Nijmegen breakage syndrome (NBS)
  • Conditions > Immunological, hereditary > Nijmegen breakage syndrome (NBS)
  • Conditions > Oncogenetics > Nijmegen breakage syndrome (NBS)

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hereditary cancer panel
  • Inherited bone marrow failure and/or predisposition panel to hematological malignancies
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Primary immunodeficiencies panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
Remarks
Chromosomal breakage analysis is possible, although not necessary. For this analysis heparin blood is required.

OMIM: 602667
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 452
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Gene

NBN - Nijmegen breakage syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 452
View Add

NBN - Nijmegen breakage syndrome


€ 452
Add
Chr.

Nijmegen breakage syndrome (chromosome breakage analysis)

Turnaround time
4 weeks
Performing laboratory
Radboudumc
€ 692
View Add

Nijmegen breakage syndrome (chromosome breakage analysis)


€ 692
Add

Nijmegen breakage syndrome (chromosome breakage analysis)

This test is available for the following conditions:

  • Conditions > Genome-wide analysis > Chromosomal analysis
  • Conditions > Oncogenetics > Nijmegen breakage syndrome (NBS)

Turnaround time
4 weeks

Method

  • Chromosome breakage analysis

OMIM: 602667
Performing laboratory: Radboudumc
Authorized material(s): Heparin blood



€ 692
Add