NL
ambiguous genitalia, sex chromosome abnormality (chromosome analysis)
From receipt of material: Routine chromosome analysis: 4 weeks | Urgent chromosome analysis: 1-2 weeks | QF-PCR: 24-72 hours From receipt of material: - Routine chromosome analysis: 4 weeks - Urgent chromosome analysis: 1-2 weeks - QF-PCR: 24-72 hours
Radboudumc
ambiguous genitalia, sex chromosome abnormality (chromosome analysis)
This test is available for the following conditions:
- Conditions > Fertility and pregnancy > Abnormal sexual development
- Conditions > Genome-wide analysis > Abnormal sexual development
Turnaround time
From receipt of material: Routine chromosome analysis: 4 weeks | Urgent chromosome analysis: 1-2 weeks | QF-PCR: 24-72 hours
From receipt of material:
- Routine chromosome analysis: 4 weeks
- Urgent chromosome analysis: 1-2 weeks
- QF-PCR: 24-72 hours
Method
- Karyotyping
- QF-PCR
Performing laboratory: Radboudumc
Authorized material(s): Heparin blood
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
carrier testing of (submicroscopic) chromosomal aberration (chromosome analysis or FISH)
This test is available for the following conditions:
- Conditions > Fertility and pregnancy > Healthy individual
- Conditions > Genome-wide analysis > Healthy individual
Turnaround time
8 weeks
Method
- Karyotyping
- FISH
Performing laboratory: Radboudumc
Authorized material(s): Heparin blood
downsyndrome (chromosome analysis)
From receipt of material: Routine chromosome analysis: 4 weeks | Urgent chromosome analysis: 1-2 weeks | QF-PCR: 24-72 hours From receipt of material: - Routine chromosome analysis: 4 weeks - Urgent chromosome analysis: 1-2 weeks - QF-PCR: 24-72 hours
Radboudumc
downsyndrome (chromosome analysis)
This test is available for the following conditions:
- Conditions > Genome-wide analysis > Multiple congenital abnormalities (MCA)
Turnaround time
From receipt of material: Routine chromosome analysis: 4 weeks | Urgent chromosome analysis: 1-2 weeks | QF-PCR: 24-72 hours
From receipt of material:
- Routine chromosome analysis: 4 weeks
- Urgent chromosome analysis: 1-2 weeks
- QF-PCR: 24-72 hours
Method
- Karyotyping
- QF-PCR
OMIM:
190685
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
Klinefelter syndrome (chromosome analysis)
This test is available for the following conditions:
- Conditions > Fertility and pregnancy > Abnormal sexual development
- Conditions > Genome-wide analysis > Abnormal sexual development
Turnaround time
4 weeks
Method
- Karyotyping
Performing laboratory: Radboudumc
Authorized material(s): Heparin blood
multiple congenital anomalies (chromosome analysis)
From receipt of material: Routine chromosome analysis: 4 weeks | Urgent chromosome analysis: 1-2 weeks | QF-PCR: 24-72 hours From receipt of material: - Routine chromosome analysis: 4 weeks - Urgent chromosome analysis: 1-2 weeks - QF-PCR: 24-72 hours
Radboudumc
multiple congenital anomalies (chromosome analysis)
This test is available for the following conditions:
- Conditions > Genome-wide analysis > Multiple congenital abnormalities (MCA)
Turnaround time
From receipt of material: Routine chromosome analysis: 4 weeks | Urgent chromosome analysis: 1-2 weeks | QF-PCR: 24-72 hours
From receipt of material:
- Routine chromosome analysis: 4 weeks
- Urgent chromosome analysis: 1-2 weeks
- QF-PCR: 24-72 hours
Method
- Karyotyping
- QF-PCR
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
