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
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
infertility (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
Analysis of the AZF regions on the Y-chromosome is executed via exome sequencing, for which a WES panel “Male infertility” is offered. With that test the most common causes of male infertility can be detected: AZF deletions on the Y-chromosome, (non-mosaic) sex chromosomal aberrations (e.g. Klinefelter syndrome, idic(Y), XX-male), and variants in the CFTR gene (in case of CBAVD). Next to these, monogenetic causes of azoöspermia, oligozoöspermia, OAT, MMAF, globozoöspermia, etc. are examined.
For detection of balanced translocations and (low-grade) mosaic sex chromosomal aberrations, karyotyping remains necessary, as these cannot be detected with exome sequencing.
For male infertility the following test is also ordered often:
WES male infertility
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