Services Chromosome diagnostics

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

---

ataxia telangiectasia (chromosome breakage analysis)

This test is available for the following conditions:

• Conditions > Genome-wide analysis > Chromosomal analysis

Turnaround time
4 weeks

Method

• Chromosome breakage analysis

OMIM: 208900
Performing laboratory: Radboudumc
Authorized material(s): Heparin blood

---

Bloom syndrome (chromosome breakage analysis)

This test is available for the following conditions:

• Conditions > Genome-wide analysis > Chromosomal analysis

Turnaround time
4 weeks

Method

• Chromosome breakage analysis

OMIM: 604610
Performing laboratory: Radboudumc
Authorized material(s): Heparin blood

---

carrier testing of (submicroscopic) chromosomal aberration (chromosome analysis or FISH)

This test is available for the following conditions:

• Conditions > Fertility and pregnancy > Healthy individual
• Conditions > Genome-wide analysis > Healthy individual

Turnaround time
8 weeks

Method

• Karyotyping
• FISH

Performing laboratory: Radboudumc
Authorized material(s): Heparin blood

---

downsyndrome (chromosome analysis)

This test is available for the following conditions:

• Conditions > Genome-wide analysis > Multiple congenital abnormalities (MCA)

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

OMIM: 190685
Performing laboratory: Radboudumc
Authorized material(s): Heparin blood

---

Fanconi anemia (chromosome breakage analysis, MMC test)

This test is available for the following conditions:

• Conditions > Genome-wide analysis > Chromosomal analysis

Turnaround time
4 weeks

Method

• Chromosome breakage analysis

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

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

---

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

---

multiple congenital anomalies (chromosome analysis)

This test is available for the following conditions:

• Conditions > Genome-wide analysis > Multiple congenital abnormalities (MCA)

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

---

Nijmegen breakage syndrome (chromosome breakage analysis)

This test is available for the following conditions:

• Conditions > Genome-wide analysis > Chromosomal analysis
• Conditions > Oncogenetics > Nijmegen breakage syndrome (NBS)

Turnaround time
4 weeks

Method

• Chromosome breakage analysis

OMIM: 602667
Performing laboratory: Radboudumc
Authorized material(s): Heparin blood

---