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:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (99.2% **)
  • WES metabolic disorders (99.2% **)
  • WES mitochondrial disorders (99.2% **)
  • WES vision disorders (99.2% **)

** % 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 & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

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

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:

  • WES intellectual disability (100.0% **)
  • WES Mendelian inherited disorders (100.0% **)
  • WES mitochondrial disorders (100.0% **)
  • WES vision disorders (100.0% **)

** % 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
Gene

OPA1 - Optic atrophy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc & Maastricht UMC+
€ 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:

  • WES comprehensive preconception carrier test ¹
  • WES hearing impairment (97.4% **)
  • WES Mendelian inherited disorders (97.4% **)
  • WES mitochondrial disorders (97.4% **)
  • WES movement disorders (97.4% **)
  • WES muscle disorders (97.4% **)
  • WES vision disorders (97.4% **)

** % 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 & Maastricht UMC+
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 & Maastricht UMC+
€ 725

OPA3 - Optic atrophy



€ 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:

  • WES comprehensive preconception carrier test ¹
  • WES Mendelian inherited disorders (82.8% **)
  • WES mitochondrial disorders (82.8% **)
  • WES vision disorders (82.8% **)

** % 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