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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

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. 4

Genetic tests of undiagnosed patients in Group C to reach a diagnosis. The most common tests ordered for Group C patients were Karyotypes and MLPA for detection of sub-telomeric deletions/duplications and known microdeletion/duplication syndromes. Single gene assays include Fragment analysis and Sanger sequencing

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172