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




€ 692

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.

ataxia telangiectasia (chromosome breakage analysis)

Turnaround time
4 weeks
Performing laboratory
Radboudumc
€ 692

ataxia telangiectasia (chromosome breakage analysis)



€ 692

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




€ 692
Chr.

Bloom syndrome (chromosome breakage analysis)

Turnaround time
4 weeks
Performing laboratory
Radboudumc
€ 692

Bloom syndrome (chromosome breakage analysis)



€ 692
Chr.

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

Turnaround time
8 weeks
Performing laboratory
Radboudumc
€ 795

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



€ 795

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




€ 795
Chr.

downsyndrome (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

downsyndrome (chromosome analysis)



€ 692

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




€ 692
Chr.

Fanconi anemia (chromosome breakage analysis, MMC test)

Turnaround time
4 weeks
Performing laboratory
Radboudumc
€ 692

Fanconi anemia (chromosome breakage analysis, MMC test)



€ 692

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




€ 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.

multiple congenital anomalies (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

multiple congenital anomalies (chromosome analysis)



€ 692

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




€ 692
Chr.

Nijmegen breakage syndrome (chromosome breakage analysis)

Turnaround time
4 weeks
Performing laboratory
Radboudumc
€ 692

Nijmegen breakage syndrome (chromosome breakage analysis)



€ 692

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




€ 692