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:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES movement disorders (% *)
- WES neuropathies¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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
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:
- WES amyotrophic lateral sclerosis, ALS (% *)
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (% *)
- WES movement disorders (% *)
- WES neuropathies¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
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)
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