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

Gene

NBN - Nijmegen breakage syndrome

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

NBN - Nijmegen breakage syndrome



€ 452

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:

  • WES comprehensive preconception carrier test ¹
  • WES hereditary cancer (% *)
  • WES inherited bone marrow failure and/or predisposition to hematological malignancies (% *)
  • WES intellectual disability (% *)
  • WES Mendelian inherited 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
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
Chr.

Nijmegen breakage syndrome (chromosome breakage analysis)

Turnaround time
4 weeks
Performing laboratory
Radboudumc
€ 692

Nijmegen breakage syndrome (chromosome breakage analysis)



€ 692