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:

  • Comprehensive preconception carrier test panel¹
  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Metabolic disorders panel

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

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:

  • Comprehensive preconception carrier test panel¹
  • Fetal akinesia panel
  • Heart disorders panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel

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:

  • Comprehensive preconception carrier test panel¹
  • Heart disorders panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel

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

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:

  • Comprehensive preconception carrier test panel¹
  • Comprehensive preconception carrier test panel¹
  • Heart disorders panel¹
  • Heart disorders panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Polyneuropathies panel¹
  • Polyneuropathies panel¹

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:

  • Comprehensive preconception carrier test panel¹
  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Metabolic disorders panel

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)
Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease or in case of a carrier analysis.
 

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:

  • Comprehensive preconception carrier test panel¹
  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Metabolic disorders panel
  • Vision disorders panel
  • Vision disorders panel

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
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:

  • Comprehensive preconception carrier test panel¹
  • Comprehensive preconception carrier test panel¹
  • Heart disorders panel¹
  • Heart disorders panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Metabolic disorders panel
  • Orofacial clefting panel with genome wide CNV analysis
  • Orofacial clefting panel with genome wide CNV analysis

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:

  • Comprehensive preconception carrier test panel¹
  • Comprehensive preconception carrier test panel¹
  • Heart disorders panel¹
  • Heart disorders panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Metabolic disorders panel

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:

  • Comprehensive preconception carrier test panel¹
  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Movement disorders panel
  • Movement disorders panel

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

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:

  • Comprehensive preconception carrier test panel¹
  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Movement disorders panel
  • Movement disorders panel

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

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:

  • Comprehensive preconception carrier test panel¹
  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Movement disorders panel
  • Movement disorders panel
  • Vision disorders panel
  • Vision disorders panel

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