Doyne honeycomb retinal dystrophy [1 gene]

Doyne honeycomb retinal dystrophy is characterized by drusen at the level of Bruck’s membrane in the macula and around the edge of the optic nerve head.

Indicated when this disease is suspected and therefore, when the presence of an ophthalmological examination compatible with age-related macular degeneration, the age of onset or accelerated evolution makes one think about this diagnostic possibility.

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1. Download & fill out

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

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4. Send the sample & the request

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5. Result: the report

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Doyne honeycomb retinal dystrophy

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Technique: Exome

Turnaround time (TAT):

Ref. S-202313107

Doyne honeycomb retinal dystrophy: View panel
  • EFEMP1

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

Doyne honeycomb retinal dystrophy