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
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
Repeated miscarriages ¹
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: Maastricht UMC+
Authorized material(s): Heparin blood
