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An audit of genetic testing in diagnosis of inherited retinal disorders: a prerequisite for gene-specific intervention
Clinical and Experimental Ophthalmology, 10/05/09
Pradhan M et al. – The introduction of genetic testing, largely via disease arrays, has been highly successful at clarifying disease genotype in this cohort. It is now a timely and cost–effective investigation that should be elemental to the assessment of inherited retinal disease. Genetic testing in an opportune fashion permits genetic counselling, enables families to make reproductive choices and might allow the possibility of gene therapy interventions.
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