Gene

ACTB - juvenile-onset dystonia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 585

ACTB - juvenile-onset dystonia



€ 585

ACTB - juvenile-onset dystonia

This test is available for the following conditions:

  • Conditions > Neurological > Dystonia

This product is also part of

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




€ 585
Gene

ANO3 - dystonia type 24

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 833

ANO3 - dystonia type 24



€ 833

ANO3 - dystonia type 24

This test is available for the following conditions:

  • Conditions > Neurological > Dystonia

This product is also part of

** % 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: 615034
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 833
Gene

ATP1A3 - dystonia type 12

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 733

ATP1A3 - dystonia type 12



€ 733

ATP1A3 - dystonia type 12

This test is available for the following conditions:

  • Conditions > Neurological > Dystonia

This product is also part of

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




€ 733
Gene

GNAL - dystonia type 25

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 654

GNAL - dystonia type 25



€ 654

GNAL - dystonia type 25

This test is available for the following conditions:

  • Conditions > Neurological > Dystonia

This product is also part of

** % 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: 139312
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 654
Gene

HPCA - torsion dystonia type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 563

HPCA - torsion dystonia type 2



€ 563

HPCA - torsion dystonia type 2

This test is available for the following conditions:

  • Conditions > Neurological > Dystonia

This product is also part of

** % 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: 224500
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 563
Gene

PNKD - paroxysmal non-kinesigenic dyskinesia

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

PNKD - paroxysmal non-kinesigenic dyskinesia



€ 632

PNKD - paroxysmal non-kinesigenic dyskinesia

This test is available for the following conditions:

  • Conditions > Neurological > Dystonia

This product is also part of

** % 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 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




€ 632
Gene

SGCE - myoclonic dystonia type 11

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 597

SGCE - myoclonic dystonia type 11



€ 597

SGCE - myoclonic dystonia type 11

This test is available for the following conditions:

  • Conditions > Neurological > Dystonia

This product is also part of

** % 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: 159900
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 597
Gene

SLC2A1 - paroxysmal choreoathetosis-spasticity / dystonia type 9)

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

SLC2A1 - paroxysmal choreoathetosis-spasticity / dystonia type 9)



€ 643

SLC2A1 - paroxysmal choreoathetosis-spasticity / dystonia type 9)

This test is available for the following conditions:

  • Conditions > Neurological > Dystonia

This product is also part of

** % 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
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




€ 643
Gene

THAP1 - torsion dystonia (DYT6)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 564

THAP1 - torsion dystonia (DYT6)



€ 564

THAP1 - torsion dystonia (DYT6)

This test is available for the following conditions:

  • Conditions > Neurological > Dystonia

This product is also part of

** % 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: 609520
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 564
Gene

TOR1A - torsion dystonia type 1 (DYT1)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 587

TOR1A - torsion dystonia type 1 (DYT1)



€ 587

TOR1A - torsion dystonia type 1 (DYT1)

This test is available for the following conditions:

  • Conditions > Neurological > Dystonia

This product is also part of

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




€ 587
Gene

TUBB4A - autosomal dominant torsion dystonia type 4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 575

TUBB4A - autosomal dominant torsion dystonia type 4



€ 575

TUBB4A - autosomal dominant torsion dystonia type 4

This test is available for the following conditions:

  • Conditions > Neurological > Dystonia

This product is also part of

** % 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: 602662
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 575