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 epilepsy (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial disorders (% *)
- WES vision disorders (% *)
* % 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
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 (including GJB2) (% *)
- WES Mendelian inherited disorders (% *)
- WES mitochondrial disorders (% *)
- WES movement disorders (% *)
- WES muscle disorders (% *)
- WES vision disorders (% *)
* % 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
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 intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES metabolic disorders (% *)
- WES mitochondrial disorders (% *)
- WES vision disorders (% *)
* % 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
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 (% *)
- WES mitochondrial disorders (% *)
- WES vision disorders (% *)
* % 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