Abnormal sexual development

Male infertility panel

This test is available for the following conditions:

• Conditions > Fertility and pregnancy > Abnormal sexual development

Turnaround time
4 weeks

Method

• Exome analysis (WES or WGS data)

Remarks
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.
 
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-4.0.0
Performing laboratory: Radboudumc
Authorized material(s): Buccal mucous membrane, EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)

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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

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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

Remarks
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

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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

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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

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