TDP1 - autosomal recessive spinocerebellar ataxia with axonal neuropathy

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, autosomal recessive

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
  • Neuropathies panel¹

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

Method

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

OMIM: 607198
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 459

Gene

ANO10 - autosomal recessive cerebellar ataxia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

ANO10 - autosomal recessive cerebellar ataxia



€ 435

ANO10 - autosomal recessive cerebellar ataxia

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, autosomal recessive

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mitochondrial 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: 613726
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 435
Gene

CLN3 - neuronal ceroid lipofuscinosis type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 426

CLN3 - neuronal ceroid lipofuscinosis type 3



€ 426

CLN3 - neuronal ceroid lipofuscinosis type 3

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, autosomal recessive

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
  • 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: 204200
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 426
Gene

CLN5 - neuronal ceroid lipofuscinosis type 5

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 633

CLN5 - neuronal ceroid lipofuscinosis type 5



€ 633

CLN5 - neuronal ceroid lipofuscinosis type 5

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, autosomal recessive

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
  • 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: 608102
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 633
Gene

COQ8A (ADCK3) - autosomal recessive spinocerebellar ataxia type 9 (SCA9)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc & Maastricht UMC+
€ 410

COQ8A (ADCK3) - autosomal recessive spinocerebellar ataxia type 9 (SCA9)



€ 410

COQ8A (ADCK3) - autosomal recessive spinocerebellar ataxia type 9 (SCA9)

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, autosomal recessive

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

Method

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

OMIM: 606980
Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 410
Gene

SETX - autosomal recessive spinocerebellar ataxia type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 872

SETX - autosomal recessive spinocerebellar ataxia type 1



€ 872

SETX - autosomal recessive spinocerebellar ataxia type 1

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, autosomal recessive

This product is also part of the following panels:

  • Amyotrophic lateral sclerosis, ALS panel
  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Movement disorders panel
  • Neuropathies panel¹

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.

OMIM: 608465
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 872
Gene

TDP1 - autosomal recessive spinocerebellar ataxia with axonal neuropathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 459

TDP1 - autosomal recessive spinocerebellar ataxia with axonal neuropathy



€ 459
Gene

WWOX - autosomal recessive cerebellar ataxia with epilepsy and intellectual disability

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 393

WWOX - autosomal recessive cerebellar ataxia with epilepsy and intellectual disability



€ 393

WWOX - autosomal recessive cerebellar ataxia with epilepsy and intellectual disability

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, autosomal recessive

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
  • 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: 605131
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 393