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Official Journal of the Human Genome Organisation

Fig. 4 | Genomic Medicine

Fig. 4

From: Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom

Fig. 4

Flowchart example of the testing pathways, predicted number of diagnoses and associated cost implications of testing the same 100 ILD genetics clinic referrals for genome imbalance via the routine karyotyping route (factoring in FISH and MLPA based telomere tests, for karyotypically normal samples) and via the aCGH route. The numbers of diagnoses expected via the karyotyping and aCGH routes and the testing scenarios are derived directly from published data, clinical diagnostic laboratory records and our own research experience. The aCGH route is expected to yield 10–15% more diagnoses than the karyotyping and multi-telomere testing route. The costings given in the flowchart are based on the conservative estimate of 10% more diagnoses, but an overall cost per diagnosis is calculated both for 10% and 15% more diagnostic yields

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