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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)

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report Panel analysis directly followed by an exome wide analysis (if the gene panel analysis does not reveal the genetic cause of the disorder)

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 2-3 months

Trio/de novo analysis of proband and both parents - TAT: 2-3 months

Single analysis of proband only - TAT: 2-3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days This test is designed for prenatal anomalies, newborn or early childhood (severe/life-threatening) conditions or conditions in need of gene specific treatment options.

Rapid Single analysis of proband only - TAT: <15 business days This test is designed for severe/life-threatening conditions or conditions in need of gene-specific treatment options AND when trio/de novo analysis is not an option or common practice.

€ 750

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Male infertility panel

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 2-3 months

Trio/de novo analysis of proband and both parents - TAT: 2-3 months

Single analysis of proband only - TAT: 2-3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days

Rapid Single analysis of proband only - TAT: <15 business days

€ 750

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ambiguous genitalia, sex chromosome abnormality (chromosome analysis)

CHROMOSOOM

standard analysis

targeted analysis of a familial mutation

€ 692

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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

CHROMOSOOM

standard analysis

targeted analysis of a familial mutation

€ 692

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infertility (chromosome analysis)

CHROMOSOOM

standard analysis

targeted analysis of a familial mutation

€ 692

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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

CHROMOSOOM

standard analysis

targeted analysis of a familial mutation

€ 692

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Klinefelter syndrome (chromosome analysis)

CHROMOSOOM

standard analysis

targeted analysis of a familial mutation

€ 692

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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

CHROMOSOOM

standard analysis

targeted analysis of a familial mutation

€ 692

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Repeated miscarriages ¹

CHROMOSOOM

standard analysis

targeted analysis of a familial mutation

€ 692

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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

CHROMOSOOM

standard analysis

targeted analysis of a familial mutation

€ 692

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Turner syndrome (chromosome analysis)

CHROMOSOOM

standard analysis

targeted analysis of a familial mutation

€ 692

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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

CHROMOSOOM

standard analysis

targeted analysis of a familial mutation

€ 692

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