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)
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. 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 3.7
Performing laboratory: Radboudumc
Authorized material(s): Buccal mucous membrane, EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)





€ 750

Exome

WES male infertility

Turnaround time
4 weeks
Performing laboratory
Radboudumc
€ 750

WES male infertility




€ 750
Chr.

ambiguous genitalia, sex chromosome abnormality (chromosome analysis)

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
Performing laboratory
Radboudumc
€ 692

ambiguous genitalia, sex chromosome abnormality (chromosome analysis)



€ 692

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




€ 692
Chr.

infertility (chromosome analysis)

Turnaround time
4 weeks
Performing laboratory
Radboudumc
€ 692

infertility (chromosome analysis)



€ 692

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




€ 692
Chr.

Klinefelter syndrome (chromosome analysis)

Turnaround time
4 weeks
Performing laboratory
Radboudumc
€ 692

Klinefelter syndrome (chromosome analysis)



€ 692

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




€ 692
Chr.

Repeated miscarriages ¹

Turnaround time
4 weeks
Performing laboratory
Maastricht UMC+
€ 692

Repeated miscarriages ¹



€ 692

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




€ 692
Chr.

Turner syndrome (chromosome analysis)

Turnaround time
4 weeks
Performing laboratory
Radboudumc
€ 692

Turner syndrome (chromosome analysis)



€ 692

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




€ 692