Dystonia

ACTB - juvenile-onset dystonia

This test is available for the following conditions:

• Conditions > Neurological > Dystonia

This product is also part of the following panels:

• Epilepsy panel
• Hearing impairment panel (including GJB2)
• Hemostatic/thrombotic disorders panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel
• Orofacial clefting panel with genome wide CNV analysis
• Primary immunodeficiencies panel
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• Skin disorders panel¹

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks

Method

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

OMIM: 607371
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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ANO3 - dystonia type 24

This test is available for the following conditions:

• Conditions > Neurological > Dystonia

This product is also part of the following panels:

• Mendelian inherited disorders panel with genome wide CNV analysis
• 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: 615034
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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ATP1A3 - dystonia type 12

This test is available for the following conditions:

• Conditions > Neurological > Dystonia

This product is also part of the following panels:

• Epilepsy panel
• Hearing impairment panel (including GJB2)
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel
• Parkinson disease panel

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

Method

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

OMIM: 182350
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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GNAL - dystonia type 25

This test is available for the following conditions:

• Conditions > Neurological > Dystonia

This product is also part of the following panels:

• Mendelian inherited disorders panel with genome wide CNV analysis
• 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: 139312
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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HPCA - torsion dystonia type 2

This test is available for the following conditions:

• Conditions > Neurological > Dystonia

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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: 224500
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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PNKD - paroxysmal non-kinesigenic dyskinesia

This test is available for the following conditions:

• Conditions > Neurological > Dystonia

This product is also part of the following panels:

• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel

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

Method

• Sequence analysis of selected exons and flanking intron-exon boundaries

Remarks
Mutations have only been described in exon 1 and 2. Therfore only these exons are analyzed.

OMIM: 609023
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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SLC2A1 - paroxysmal choreoathetosis-spasticity / dystonia type 9)

This test is available for the following conditions:

• Conditions > Neurological > Dystonia

This product is also part of the following panels:

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

Remarks
"MLPA analysis will not be performed on a routine basis, because deletions are very rare. MLPA can be requested as separate test ."

OMIM: 138140
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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THAP1 - torsion dystonia (DYT6)

This test is available for the following conditions:

• Conditions > Neurological > Dystonia

This product is also part of the following panels:

• Mendelian inherited disorders panel with genome wide CNV analysis
• 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: 609520
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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TOR1A - torsion dystonia type 1 (DYT1)

This test is available for the following conditions:

• Conditions > Neurological > Dystonia

This product is also part of the following panels:

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

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

Method

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

OMIM: 605204
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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TUBB4A - autosomal dominant torsion dystonia type 4

This test is available for the following conditions:

• Conditions > Neurological > Dystonia

This product is also part of the following panels:

• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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: 602662
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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