Ataxia and oculomotor apraxia

PNKP - ataxia with oculomotor apraxia type 4

This test is available for the following conditions:

• Conditions > Neurological > Ataxia and oculomotor apraxia

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Epilepsy panel
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel
• 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: 605610
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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SETX - ataxia and oculomotor apraxia

This test is available for the following conditions:

• Conditions > Neurological > Ataxia and oculomotor apraxia

This product is also part of the following panels:

• Amyotrophic lateral sclerosis, ALS panel
• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel
• Neuropathies panel¹

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)

Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease.

OMIM: 608465
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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