Panel

panel spinocerebellar ataxia type 1, 2, 3, 6, 7, 17, DRPLA

Turnaround time
8 weeks
Performing laboratory
Radboudumc
€ 667

panel spinocerebellar ataxia type 1, 2, 3, 6, 7, 17, DRPLA



€ 667

panel spinocerebellar ataxia type 1, 2, 3, 6, 7, 17, DRPLA

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, aut. dominant

Turnaround time
8 weeks

Method

  • PCR followed by fragment (length) analysis
  • Detection of (expanded) repeats using fragment length analysis of triple primed PCR product.
Remarks
The genes ATXN1, ATXN2, ATXN3, CACNA1A, TBP & ATN1 will be tested.

Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA




€ 667
Gene

AFG3L2 - autosomal dominant spinocerebellair ataxia type 28

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 699

AFG3L2 - autosomal dominant spinocerebellair ataxia type 28



€ 699

AFG3L2 - autosomal dominant spinocerebellair ataxia type 28

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, aut. dominant

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: 604581
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 699
Gene

ATN1 - dentatorubro-pallidoluysian atrophy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 550

ATN1 - dentatorubro-pallidoluysian atrophy



€ 550

ATN1 - dentatorubro-pallidoluysian atrophy

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, aut. dominant

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

  • PCR followed by fragment (length) analysis
  • Detection of (expanded) repeats using fragment length analysis of triple primed PCR product.

OMIM: 607462
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 550
Gene

ATXN1 - spinocerebellar ataxia type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 550

ATXN1 - spinocerebellar ataxia type 1



€ 550

ATXN1 - spinocerebellar ataxia type 1

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, aut. dominant

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

  • PCR followed by fragment (length) analysis
  • Detection of (expanded) repeats using fragment length analysis of triple primed PCR product.

OMIM: 601556
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 550
Gene

ATXN2 - spinocerebellar ataxia type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 550

ATXN2 - spinocerebellar ataxia type 2



€ 550

ATXN2 - spinocerebellar ataxia type 2

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, aut. dominant

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

  • PCR followed by fragment (length) analysis
  • Detection of (expanded) repeats using fragment length analysis of triple primed PCR product.

OMIM: 601517
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 550
Gene

ATXN3 - spinocerebellar ataxia type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 550

ATXN3 - spinocerebellar ataxia type 3



€ 550

ATXN3 - spinocerebellar ataxia type 3

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, aut. dominant

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

  • PCR followed by fragment (length) analysis
  • Detection of (expanded) repeats using fragment length analysis of triple primed PCR product.

OMIM: 607047
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 550
Gene

ATXN7 - spinocerebellar ataxia type 7

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 550

ATXN7 - spinocerebellar ataxia type 7



€ 550

ATXN7 - spinocerebellar ataxia type 7

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, aut. dominant

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

  • PCR followed by fragment (length) analysis
  • Detection of (expanded) repeats using fragment length analysis of triple primed PCR product.

OMIM: 677640
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 550
Gene

CACNA1A - spinocerebellar ataxia type 6 (SCA6)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 550

CACNA1A - spinocerebellar ataxia type 6 (SCA6)



€ 550

CACNA1A - spinocerebellar ataxia type 6 (SCA6)

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, aut. dominant

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

  • PCR followed by fragment (length) analysis
  • Detection of (expanded) repeats using fragment length analysis of triple primed PCR product.

OMIM: 601011
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 550
Gene

DNMT1 - ataxia, deafness and narcolepsy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 935

DNMT1 - ataxia, deafness and narcolepsy



€ 935

DNMT1 - ataxia, deafness and narcolepsy

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, aut. dominant

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: 126375
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 935
Gene

KCND3 - spinocerebellar ataxia type 19

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 608

KCND3 - spinocerebellar ataxia type 19



€ 608

KCND3 - spinocerebellar ataxia type 19

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, aut. dominant

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: 607346
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 608
Gene

TBP - spinocerebellar ataxia type 17 (SCA17)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 550

TBP - spinocerebellar ataxia type 17 (SCA17)



€ 550

TBP - spinocerebellar ataxia type 17 (SCA17)

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, aut. dominant

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

  • PCR followed by fragment (length) analysis
  • Detection of (expanded) repeats using fragment length analysis of triple primed PCR product.

OMIM: 600075
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 550
Gene

TGM6 - spinocerebellar ataxia type 35

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 665

TGM6 - spinocerebellar ataxia type 35



€ 665

TGM6 - spinocerebellar ataxia type 35

This test is available for the following conditions:

  • Conditions > Neurological > Spinocerebellar ataxia, aut. dominant

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: 613908
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 665