NL
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 with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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
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 with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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
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 with genome wide CNV analysis
- 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
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 with genome wide CNV analysis
- 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
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 with genome wide CNV analysis
- 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
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 with genome wide CNV analysis
- 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
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 with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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
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 with genome wide CNV analysis
- 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
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
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 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:
607346
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
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 with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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
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 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:
613908
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
