Gene

APTX - ataxia and oculomotor apraxia type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 643

APTX - ataxia and oculomotor apraxia type 1



€ 643

APTX - ataxia and oculomotor apraxia type 1

This test is available for the following conditions:

  • Conditions > Neurological > Ataxia and oculomotor apraxia

This product is also part of

** % 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: 606350
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 643
Gene

PNKP - ataxia with oculomotor apraxia type 4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 721

PNKP - ataxia with oculomotor apraxia type 4



€ 721

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

** % 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




€ 721
Gene

SETX - ataxia and oculomotor apraxia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 923

SETX - ataxia and oculomotor apraxia



€ 923

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

** % 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)

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




€ 923