NR2F1 - Bosch-Boonstra-Schaaf optic atrophy syndrome

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Optic atrophy
  • Conditions > Vision impairment / blindness > Optic atrophy

This product is also part of the following panels:

** % 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: 615722
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 336

Products Conditions Mitochondrial disorders Optic atrophy
Gene

NR2F1 - Bosch-Boonstra-Schaaf optic atrophy syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 336

NR2F1 - Bosch-Boonstra-Schaaf optic atrophy syndrome



€ 336
Gene

OPA1 - Optic atrophy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

OPA1 - Optic atrophy



€ 725

OPA1 - Optic atrophy

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Optic atrophy

This product is also part of the following panels:

** % 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: 605290
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

OPA3 - Optic atrophy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

OPA3 - Optic atrophy



€ 725

OPA3 - Optic atrophy

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Optic atrophy

This product is also part of the following panels:

** % 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: 606580
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

TMEM126A - Optic atrophy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

TMEM126A - Optic atrophy



€ 725

TMEM126A - Optic atrophy

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Optic atrophy

This product is also part of the following panels:

** % 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: 612988
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725