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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:
- Epilepsy panel
- Intellectual disability panel
- Mendelian inherited disorders panel
- Mitochondrial disorders panel
- Vision disorders panel
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
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:
- Comprehensive preconception carrier test panel¹
- Hearing impairment panel (including GJB2)
- Mendelian inherited disorders panel
- Mitochondrial disorders panel
- Movement disorders panel
- Muscle disorders panel
- Vision disorders panel
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
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:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel
- Mendelian inherited disorders panel
- Metabolic disorders panel
- Mitochondrial disorders panel
- Vision disorders panel
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
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:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel
- Mitochondrial disorders panel
- Vision disorders panel
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
