NL
WES male infertility
This test is available for the following conditions:
- Conditions > Fertility and pregnancy > Abnormal sexual development
Turnaround time
4 weeks
Method
- Whole exome sequencing (WES)
This test includes a panelwide CNV analysis, including CNV analysis of the AZF regions on the Y-chromosome. Upon request an exome wide CNV analysis can be performed. This panel contains 130 genes.
With this 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 azoospermia, severe oligozoospermia, OAT, MMAF, globozoospermia, etc. are examined.
NB: the complete CFTR gene is analyzed in all cases, according to our standards, and potential carriership for cystic fibrosis will be reported due to possible treatment consequences!
Balanced translocations and (low-grade) mosaic sex chromosomal aberrations cannot be detected with exome sequencing. Karyotyping is recommended, especially in azoospermia and severe oligozoospermia cases.
The turnaround time for this test is 4 weeks from receipt of materials, despite the TAT listed below!
For male infertility the following test is also ordered often:
Infertility (chromosome analysis)
Panel version:
DG 3.6
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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
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
Turner 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
- FISH
Performing laboratory: Radboudumc
Authorized material(s): Heparin blood
