Gene

EFEMP1 - Doyne honeycomb degeneration of retina

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 320

EFEMP1 - Doyne honeycomb degeneration of retina



€ 320

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:

  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Vision disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of selected exons and flanking intron-exon boundaries
Remarks
Only exon 9 is analysed

OMIM: 601548
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 320