Nijmegen breakage syndrome (NBS)

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

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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

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