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Table 3 Clinical outcomes used as indicators to assess the performance of diagnostics

From: Monitoring clinical quality in rare disease services – experience in England

Condition Outcome measure
Amyloidosis External Quality Assurance Services (EQAS) plus external inspection
Mitochondrial disorders External Quality Assurance Services (EQAS) plus external inspection
Ophthalmic pathology External Quality Assurance Services (EQAS) plus external inspection to be arranged
Primary ciliary dyskinesia To be determined
Rare neuromuscular disorder External Quality Assurance Services (EQAS) plus external inspection