Episodic ataxia

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

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