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 (100.0% *)
- WES inherited bone marrow failure and/or predisposition to hematological malignancies (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES primary immunodeficiencies (100.0% *)
* % 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
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