Macular dystrophy, patterned
Analysis ID 253
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Macular dystrophy, patterned
OMIM #169150
Clinical information Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders. Three main entities of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy, macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes PRPH2
Analysis description Sequencing of the entire coding region of the PRPH2 gene
Analysis indication Symptoms of patterned macular dystrophy
Analysis time 3 – 4 weeks
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics