NL
ataxia telangiectasia (chromosome breakage analysis)
This test is available for the following conditions:
- Conditions > Genome-wide analysis > Chromosomal analysis
Turnaround time
4 weeks
Method
- Chromosome breakage analysis
OMIM:
208900
Performing laboratory: Radboudumc
Authorized material(s): Heparin blood
Bloom syndrome (chromosome breakage analysis)
This test is available for the following conditions:
- Conditions > Genome-wide analysis > Chromosomal analysis
Turnaround time
4 weeks
Method
- Chromosome breakage analysis
OMIM:
604610
Performing laboratory: Radboudumc
Authorized material(s): Heparin blood
Fanconi anemia (chromosome breakage analysis, MMC test)
This test is available for the following conditions:
- Conditions > Genome-wide analysis > Chromosomal analysis
Turnaround time
4 weeks
Method
- Chromosome breakage analysis
Performing laboratory: Radboudumc
Authorized material(s): Heparin blood
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
