EFEMP1 - Doyne honeycomb degeneration of retina
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Malattia Leventinese
This product is also part of the following panels:
- WES Mendelian inherited 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 selected exons and flanking intron-exon boundaries
Only exon 9 is analysed
OMIM:
601548
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane