Gene

FKRP - Walker Warburg syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 576

FKRP - Walker Warburg syndrome



€ 576

FKRP - Walker Warburg syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
  • Conditions > Neuromuscular > Walker-Warburg (-like) syndrome

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 606596
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 576
Gene

FKTN - Walker Warburg syndrome (Fukuyama muscular dystrophy)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 632

FKTN - Walker Warburg syndrome (Fukuyama muscular dystrophy)



€ 632

FKTN - Walker Warburg syndrome (Fukuyama muscular dystrophy)

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
  • Conditions > Neuromuscular > Walker-Warburg (-like) syndrome

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 607440
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 632
Gene

ISPD - Walker Warburg syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 643

ISPD - Walker Warburg syndrome



€ 643

ISPD - Walker Warburg syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
  • Conditions > Neuromuscular > Walker-Warburg (-like) syndrome

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 614631
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 643
Gene

LAMA2 - congenital merosin-deficient muscular dystrophy type 1A

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 1260

LAMA2 - congenital merosin-deficient muscular dystrophy type 1A



€ 1260

LAMA2 - congenital merosin-deficient muscular dystrophy type 1A

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
  • Conditions > Neuromuscular > Walker-Warburg (-like) syndrome

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 156225
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 1260
Gene

LARGE1 - Walker Warburg syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 688

LARGE1 - Walker Warburg syndrome



€ 688

LARGE1 - Walker Warburg syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
  • Conditions > Neuromuscular > Walker-Warburg (-like) syndrome

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Deletion/duplication analysis (MLPA)

OMIM: 603590
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 688
Gene

POMGNT1 - Walker Warburg syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 710

POMGNT1 - Walker Warburg syndrome



€ 710

POMGNT1 - Walker Warburg syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
  • Conditions > Neuromuscular > Walker-Warburg (-like) syndrome

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 606822
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 710
Gene

POMGNT2 - Walker Warburg syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 598

POMGNT2 - Walker Warburg syndrome



€ 598

POMGNT2 - Walker Warburg syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
  • Conditions > Neuromuscular > Walker-Warburg (-like) syndrome

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 614828
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 598
Gene

POMT1 - Walker Warburg syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 755

POMT1 - Walker Warburg syndrome



€ 755

POMT1 - Walker Warburg syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
  • Conditions > Neuromuscular > Walker-Warburg (-like) syndrome

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 607423
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 755
Gene

POMT2 - Walker Warburg syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 755

POMT2 - Walker Warburg syndrome



€ 755

POMT2 - Walker Warburg syndrome

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
  • Conditions > Neuromuscular > Walker-Warburg (-like) syndrome

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 607439
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 755
Gene

RAB18 - Warburg micro syndrome type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 598

RAB18 - Warburg micro syndrome type 3



€ 598

RAB18 - Warburg micro syndrome type 3

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
  • Conditions > Neuromuscular > Walker-Warburg (-like) syndrome

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 602207
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 598
Gene

RAB3GAP1 - Warburg micro syndrome type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 778

RAB3GAP1 - Warburg micro syndrome type 1



€ 778

RAB3GAP1 - Warburg micro syndrome type 1

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
  • Conditions > Neuromuscular > Walker-Warburg (-like) syndrome

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 602536
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 778
Gene

RAB3GAP2 - Warburg micro syndrome type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 879

RAB3GAP2 - Warburg micro syndrome type 2



€ 879

RAB3GAP2 - Warburg micro syndrome type 2

This test is available for the following conditions:

  • Conditions > Multiple congenital anomalies (MCA) > Walker-Warburg (-like) syndrome
  • Conditions > Neuromuscular > Walker-Warburg (-like) syndrome

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 609275
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 879