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:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (98.9% **)
  • WES Mendelian inherited disorders (98.9% **)
  • WES movement disorders (98.9% **)

** % 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




€ 493

Gene

FKRP - Walker Warburg syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 345

FKRP - Walker Warburg syndrome



€ 345

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:

  • WES comprehensive preconception carrier test ¹
  • WES fetal akinesia (100.0% **)
  • WES heart disorders¹ (100.0% **)
  • WES intellectual disability (100.0% **)
  • WES Mendelian inherited disorders (100.0% **)
  • WES metabolic disorders (100.0% **)
  • WES muscle disorders (100.0% **)

** % 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




€ 345
Gene

FKTN - Walker Warburg syndrome (Fukuyama muscular dystrophy)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 386

FKTN - Walker Warburg syndrome (Fukuyama muscular dystrophy)



€ 386

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:

  • WES comprehensive preconception carrier test ¹
  • WES heart disorders¹ (96.1% **)
  • WES intellectual disability (96.1% **)
  • WES Mendelian inherited disorders (96.1% **)
  • WES metabolic disorders (96.1% **)
  • WES muscle disorders (96.1% **)

** % 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




€ 386
Gene

ISPD - Walker Warburg syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 394

ISPD - Walker Warburg syndrome



€ 394

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:

  • WES comprehensive preconception carrier test ¹
  • WES fetal akinesia (97.5% **)
  • WES intellectual disability (97.5% **)
  • WES Mendelian inherited disorders (97.5% **)
  • WES metabolic disorders (97.5% **)
  • WES muscle disorders (97.5% **)

** % 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




€ 394
Gene

LAMA2 - congenital merosin-deficient muscular dystrophy type 1A

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 847

LAMA2 - congenital merosin-deficient muscular dystrophy type 1A



€ 847

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:

  • WES comprehensive preconception carrier test ¹
  • WES heart disorders¹ (99.5% **)
  • WES intellectual disability (99.5% **)
  • WES Mendelian inherited disorders (99.5% **)
  • WES muscle disorders (99.5% **)

** % 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




€ 847
Gene

LARGE1 - Walker Warburg syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 427

LARGE1 - Walker Warburg syndrome



€ 427

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:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (99.7% **)
  • WES Mendelian inherited disorders (99.7% **)
  • WES metabolic disorders (99.7% **)
  • WES muscle disorders (99.7% **)

** % 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




€ 427
Gene

POMGNT1 - Walker Warburg syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 443

POMGNT1 - Walker Warburg syndrome



€ 443

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:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (99.6% **)
  • WES Mendelian inherited disorders (99.6% **)
  • WES metabolic disorders (99.6% **)
  • WES muscle disorders (99.6% **)
  • WES vision disorders (99.6% **)

** % 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




€ 443
Gene

POMGNT2 - Walker Warburg syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 361

POMGNT2 - Walker Warburg syndrome



€ 361

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:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (100.0% **)
  • WES Mendelian inherited disorders (100.0% **)
  • WES metabolic disorders (100.0% **)
  • WES muscle disorders (100.0% **)

** % 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




€ 361
Gene

POMT1 - Walker Warburg syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 476

POMT1 - Walker Warburg syndrome



€ 476

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:

  • WES comprehensive preconception carrier test ¹
  • WES heart disorders¹ (97.8% **)
  • WES intellectual disability (97.8% **)
  • WES Mendelian inherited disorders (97.8% **)
  • WES metabolic disorders (97.8% **)
  • WES muscle disorders (97.8% **)

** % 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




€ 476
Gene

POMT2 - Walker Warburg syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 476

POMT2 - Walker Warburg syndrome



€ 476

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:

  • WES comprehensive preconception carrier test ¹
  • WES heart disorders¹ (98.4% **)
  • WES intellectual disability (98.4% **)
  • WES Mendelian inherited disorders (98.4% **)
  • WES metabolic disorders (98.4% **)
  • WES muscle disorders (98.4% **)

** % 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




€ 476
Gene

RAB18 - Warburg micro syndrome type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 361

RAB18 - Warburg micro syndrome type 3



€ 361

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:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (97.2% **)
  • WES Mendelian inherited disorders (97.2% **)
  • WES movement disorders (97.2% **)

** % 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




€ 361
Gene

RAB3GAP1 - Warburg micro syndrome type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 493

RAB3GAP1 - Warburg micro syndrome type 1



€ 493
Gene

RAB3GAP2 - Warburg micro syndrome type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 567

RAB3GAP2 - Warburg micro syndrome type 2



€ 567

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:

  • WES comprehensive preconception carrier test ¹
  • WES intellectual disability (96.9% **)
  • WES Mendelian inherited disorders (96.9% **)
  • WES movement disorders (96.9% **)
  • WES vision disorders (96.9% **)

** % 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




€ 567