Spinocerebellar ataxia, aut. dominant

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, ATXN7, CACNA1A, TBP & ATN1 will be tested.

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

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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 the following panels:

• Comprehensive preconception carrier test panel¹
• Intellectual disability panel
• Mendelian inherited disorders panel
• Mitochondrial disorders panel
• Movement disorders panel
• Neuropathies panel¹
• 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: 604581
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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ATN1 - dentatorubro-pallidoluysian atrophy

This test is available for the following conditions:

• Conditions > Neurological > Spinocerebellar ataxia, aut. dominant

This product is also part of the following panels:

• Epilepsy panel
• Intellectual disability panel
• Mendelian inherited disorders panel
• Movement disorders panel
• panel spinocerebellar ataxia type 1, 2, 3, 6, 7, 17, DRPLA

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

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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 the following panels:

• Mendelian inherited disorders panel
• panel spinocerebellar ataxia type 1, 2, 3, 6, 7, 17, DRPLA

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

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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 the following panels:

• Mendelian inherited disorders panel
• panel spinocerebellar ataxia type 1, 2, 3, 6, 7, 17, DRPLA

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

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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 the following panels:

• Mendelian inherited disorders panel
• panel spinocerebellar ataxia type 1, 2, 3, 6, 7, 17, DRPLA

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

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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 the following panels:

• Mendelian inherited disorders panel
• panel spinocerebellar ataxia type 1, 2, 3, 6, 7, 17, DRPLA

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

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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 the following panels:

• Epilepsy panel
• Intellectual disability panel
• Mendelian inherited disorders panel
• Movement disorders panel
• Neurological pain disorders panel¹
• panel spinocerebellar ataxia type 1, 2, 3, 6, 7, 17, DRPLA

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

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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 the following panels:

• Mendelian inherited disorders panel
• Metabolic disorders panel
• Movement disorders panel
• Neurological pain disorders panel¹
• 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: 126375
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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FGF14 - autosomal dominant spinocerebellar ataxia type 27B

This test is available for the following conditions:

• Conditions > Neurological > Spinocerebellar ataxia, aut. dominant

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

Method

• Locusspanning PCR, repeat-primed PCR and, if needed, long-range PCR with long-read sequencing

OMIM: 601515
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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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 the following panels:

• Epilepsy panel
• Heart disorders panel¹
• Mendelian inherited 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: 607346
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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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 the following panels:

• Intellectual disability panel
• Mendelian inherited disorders panel
• panel spinocerebellar ataxia type 1, 2, 3, 6, 7, 17, DRPLA

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

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