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Genetic Testing (also called Genotyping)

Generally, is defined as determining the genetic make-up of an individual; specifically, is looking for the gene(s) that cause an individual's retinal degenerative disease.

Genotyping is the process of screening patients' DNA samples to identify the specific gene and the specific mutation (spelling mistake) in a gene that causes a disease. The DNA samples are normally obtained by collecting a blood sample (since all cells of the body have the same genetic code). For more information on genotyping and how you can be tested, please obtain a copy of the Foundation's Genetic Testing Information Packet on the FFB website. Scientists are attempting to connect the genotype (see Genetic Testing) with the phenotype (physical and clinical symptoms) for every disease.

 

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