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 (99.9% *)
- WES intellectual disability (99.9% *)
- WES Mendelian inherited disorders (99.9% *)
- WES mitochondrial disorders (99.9% *)
- WES vision disorders (99.9% *)
* % 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