Gene

ACTB - juvenile-onset dystonia

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

ACTB - juvenile-onset dystonia



€ 344

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




€ 344
Gene

ANO3 - dystonia type 24

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 533

ANO3 - dystonia type 24



€ 533

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




€ 533
Gene

ATP1A3 - dystonia type 12

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 460

ATP1A3 - dystonia type 12



€ 460

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




€ 460
Gene

GNAL - dystonia type 25

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 402

GNAL - dystonia type 25



€ 402

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




€ 402
Gene

HPCA - torsion dystonia type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 336

HPCA - torsion dystonia type 2



€ 336

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




€ 336
Gene

PNKD - paroxysmal non-kinesigenic dyskinesia

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

PNKD - paroxysmal non-kinesigenic dyskinesia



€ 386

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




€ 386
Gene

SGCE - myoclonic dystonia type 11

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 360

SGCE - myoclonic dystonia type 11



€ 360

SGCE - myoclonic dystonia type 11

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
  • Deletion/duplication analysis (MLPA)

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




€ 360
Gene

SLC2A1 - paroxysmal choreoathetosis-spasticity / dystonia type 9)

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

SLC2A1 - paroxysmal choreoathetosis-spasticity / dystonia type 9)



€ 394

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




€ 394
Gene

THAP1 - torsion dystonia (DYT6)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 336

THAP1 - torsion dystonia (DYT6)



€ 336

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




€ 336
Gene

TOR1A - torsion dystonia type 1 (DYT1)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 352

TOR1A - torsion dystonia type 1 (DYT1)



€ 352

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




€ 352
Gene

TUBB4A - autosomal dominant torsion dystonia type 4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

TUBB4A - autosomal dominant torsion dystonia type 4



€ 344

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




€ 344