Malattia Leventinese

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

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