NL
CACNA1A - episodic ataxia type 2
This test is available for the following conditions:
- Conditions > Neurological > Episodic ataxia
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
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
601011
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KCNA1 - episodic ataxia type 1
This test is available for the following conditions:
- Conditions > Neurological > Episodic ataxia
This product is also part of the following panels:
- Epilepsy panel
- 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:
176260
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
