Study of the RPE65 gene (variant)

The RPE65 gene encodes epithelium-specific retinal pigment 65, also known as retinide isomerohydrolase. This enzyme plays a fundamental role in the development of normal vision in vertebrates, so defects in its synthesis cause a multitude of inherited retinal diseases, such as retinitis pigmentosa.

ATGMedical provides a full range of studies to characterize this gene both at the level of nucleotide variants and in its entirety (Sanger sequencing), as well as accompanied by 9 other genes to be chosen by the professional (NGS massive sequencing).

PRICES DO NOT INCLUDE SALIVA EXTRACTION KITS (€38 including shipping) OR BLOOD (€30.50)