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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Retrospective file review shows limited genetic services fail most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constrained settings

Fig. 2

Overall percentages of patient diagnostic outcomes. The majority of patients remained undiagnosed, and of those with genetically confirmed diagnoses the majority were diagnosed with aneuploidies. A diagnosis was considered genetically confirmed only if a positive genetic (cytogenetic or DNA based testing methodologies) result was on record for the patient

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172