Walker-Warburg (-like) syndrome

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

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

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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

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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% *)
• WES neuropathies¹ (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

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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 (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
• 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

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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 (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES metabolic disorders (100.0% *)
• WES muscle disorders (100.0% *)
• WES vision 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: 606822
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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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

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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 (100.0% *)
• WES intellectual disability (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES metabolic disorders (100.0% *)
• WES muscle disorders (100.0% *)
• WES orofacial clefting (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: 607423
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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

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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 (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES movement 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: 602207
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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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 (99.0% *)
• WES Mendelian inherited disorders (99.0% *)
• WES movement disorders (99.0% *)

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

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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 (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES movement disorders (100.0% *)
• WES vision 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: 609275
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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